Wednesday, November 30, 2022

Researchers Sequence Genome of Honeycrisp apple

 

The honey crisp apple is one of the most profitable apples sold in the US.  Researches aimed to sequence the genome to be able to remove negative genes such as bitter pit and calcium balance while keeping the favorable traits such as cold hardiness. The first apple genome was sequenced in 2010. This was accomplished through analysis of short 150 base pair fragments. These fragments would then find overlaps and put the pieces together. The scientists who sequenced this apple's genome were able to sequence the whole genome continuously. In order to study the genome the scientists would sequence two individual sets of chromosomes, they believed this work could be very important in the future when identifying specific genes to each parent. 

This was an interesting article to read especially after watching the video about the genetics of apples. It was especially interesting to read about the specific traits that are favorable and unfavorable to the apple. This work definitely can be important for the future in terms of identifying parental contributions to their offspring's genome. 

Honey Bee Life Spans are 50% Shorter Compared to 50 Years Ago

 


Entomologists from Maryland have found that bees that are kept in a controlled environment do not live as long as bees in the past. This affects honey production, and lifespan of bee colonies.  For years, beekeepers are losing their colonies much quicker than they have in the past, and entomologists are also seeing this effect in their labs. Experiments were conducted to see if bees were facing environmental stressors, malnutrition, diseases or parasite infections, which are normally reasons that bees have shorter lifespans. 


A Ph.D student from the University of Maryland has observed that bees are isolated from a young age, and just before they reach adulthood, they are taken out of isolation. This means that something is occurring when the bees are young that is causing them to die early. This could be a genetic factor, so scientists are working on separating the bees based on what genes they carry. This is going to involve a lot of genetic sequencing. 


I think the reason that bees that are isolated at a young age are dying faster is because of some developmental factor. If bees are kept in an incubator, then they are not able to interact in an environment that is normal for them. Perhaps the bees in the incubator mated with each other too much, and the generations of bees now have inherited genes that cause defects. If bees were kept in controlled environments for too long, then it is likely that inbreeding occurred. If inbreeding increases homozygosity, then new bees may be homozygous for recessive genes that affect their survival. With less genetic variation, a species will struggle to survive when there are external factors that affect their population. This makes extinction more likely.

Genetics is Responsible For Shorter Honey Bee Lifespan

A study by researchers at the University of Maryland has shown that genetics is the likely factor responsible for shorter honey bee lifespans today compared to 50 years ago. The common belief was that environmental factors causing stress to the bees were responsible for their shorter lifespan but this study points towards genetics being the actual culprit. The study isolated bees from a colony just before they became adults so the bees could live in a controlled lab environment without environmental stressors. The researchers were experimenting with changes in the lab bees' diets when they found that no matter what the bees were fed they all had an average lifespan of 17.7 days, approximately half of the 34.3-day lifespan observed in bees in the 1970s. Mortality rates doubled over this time and since the lab conditions are free of environmental stressors, it is likely that genetics, rather than environmental factors are the cause of the shorter bee lifespan. The researchers have said that the shorter lifespan has been linked to less foraging time in the wild, lower honey production, and colony loss. The next step of the researchers is to increase the sample size by looking at more bees throughout the US and abroad. 


I think this article was informative and hope more work is done to identify the genes responsible for the shorter bee lifespan. Bees are very important to humans as 75% of the number of crops we grow are dependant on bees for pollination and one-third of global crop production relies on bees, and $200-600 billion of annual global food production depends on bees. This shows why bees are extremely valuable to humans and why studying them is important, and why we need to do more research on why bee lifespans are declining and what we can do to stop it. 

Tuesday, November 29, 2022

Rat Species Has No Y Chromosome!

Amami Spiny Rat

A team of researchers at Hokkaido University in Japan has figured out how a species of rat is able to survive and reproduce despite not having a Y chromosome. The rat species they studied was the Amami spiny rat (Tokudaia osimensis), a rodent native to the island of Amami Ōshima in southern Japan. The species, also called the Ryukyu spiny rat, is unique in that males do not have a Y chromosome and females only have one X chromosome as well. Previous attempts to study the rat have not been able to reveal how males are able to develop within the population with no Y chromosome. Typically in mammals, a gene on the Y chromosome called SRY tells the organism's body to express male genes like the SOX9 gene for testes. Not having the Y chromosome scientists were stumped at how males could develop. Lead researcher, Asato Kuroiwa, and her colleagues at Hokkaido have now discovered the answer! The secret was looking at the autosomes, non-sex chromosomes, in the rat. On chromosome 3 they found that one copy had a duplicated region next to the SOX9 gene. The duplication increases the activity of the SOX9 gene and it is able to code for testes. This duplicated region effectively replaces the SRY gene on the Y chromosome and explains how males of this species are formed. If a rat has the duplication region it acts as a proto-Y and the rat will be a male, and if the duplication region is absent, it acts as a proto-X and the rat will be a female. Further work to explore this is limited as the rat is an endangered species but the research so far has shown an amazing trait inherited by this rat population. The researchers predict the trait appeared about 2 million years ago when the Amami spiny rats diverged from their ancestors with a Y chromosome. Kuroiwa believes that a mixed population existed initially on the island but then a natural disaster like flooding or rising seas left mostly rats without the Y chromosome and over time the rats reproduced and evolved into a new species with this trait. 

Personally, this was my favorite article to read so far about genetics. I find it incredible that a species can exist without a Y chromosome and that another chromosome was able to replace its function to make males. This is a really interesting example of population evolution, genetic drift, and speciation. I hope that these rats can be studied more to learn about this unique and interesting trait. 

Benefits and Safety of Bepirovirsen in Chronic Hepatitis B Infection

 

Bepirovirsen is an antisense oligonucleotide that produces sustainable clearance of hepatitis B virus (HBV) and hepatitis B surface antigens (HBsAg). Bepirovirsen is designed to specifically recognize the RNA that HBV uses to replicate in infected liver cells and to make the viral antigens that facilitate the severity of the virus by helping to avoid being cleared by the immune system. In addition, bepirovirsen is able to stimulate immune responses through Toll-like receptor 8 (TLR8), which may enable the immune system to achieve a long-lasting clearance of HBV from blood circulation.

Researchers conducted a phase B trial involving participants with chronic HBV infection or not receiving nucleoside or nucleoside analog therapy. Participants were randomly assigned to receive weekly injections of bepirovirsen at a dose of 300 mg for 24 weeks (group 1), 300 mg for 12 weeks then 150 mg for 12 weeks (group 2), 300 mg for 12 weeks then placebo for 12 weeks (group 3), or placebo for 12 weeks then bepirovirsen at a dose of 300 mg for 12 weeks (group 4). It was found that bepirovirsen at a dose of 300 mg for 24 weeks resulted in the most sustained HBsAg and HBV DNA loss in participants with chronic HBV infection. 

Bepirovirsen has shown many positive results in the treatment of hepatitis B. Although, many of the participants who were injected with bepirovirsen experienced pyrexia, fatigue, and increased alanine aminotransferase levels.  Even though some of these are common reactions that may occur when injected with treatments, I believe that more trials should be done to prove the efficacy and safety of bepirovirsen. It is also important to remember that hepatitis B is a chronic medical condition like diabetes and high blood pressure that can be successfully managed if you take care of your health and liver. 


Monday, November 28, 2022

DNA and the impact it has on COVID-19

 

Since the beginning of the pandemic, the mercurial nature of the coronavirus has been on display. Some people may receive mild, cold-like illnesses or even have no symptoms at all, while other people become very ill and may die from COVID-19. It is hard to predict who may succumb to this problem, but according to an article researchers are searching for genetic clues that may lead to answers. Some studies that have recently been tested, have found that versions of genes inherited from Neandertals may protect against COVID-19, while other genetic heirlooms passed down from Neandertals can up the risk of the disease and severity. An international study was conducted to examine and study DNA from more than 28,000 COVID-19 patients and almost 600,000 people who had not been infected that confirmed their inheritance from Neandertals is involved in COVID-19 susceptibility. This study had also confirmed a previous finding that people with type O blood may have some protection against getting infected, but exactly what accounts for the protection is still not known. People with rare variants in a gene called toll-like receptor 7 or TLR7 are5.3 times more likely to get severe COVID-19 than those who don’t have the variants. TLR&’s protein is involved in signaling the immune system that a virus has invaded. 

This article was very interesting to read. It made me question if my relatives are descendants of Neandertals or not. Although this article was very interesting, I still believe researchers need to research more on this topic as COVID-19 seems to be a virus that will unfortunately never go away, and possibly find better solutions to protect ourselves from this disease better. 

Sunday, November 27, 2022

A Child was Treated for a Rare Genetic Disease While in the Womb


Researchers and doctors were able to fully treat a toddler girl from a rare genetic disease before she was even born. Ayla, a sixteen-month-old toddler, had infantile-onset Pompe disease, a genetic disorder that can cause organ damage that starts before birth. Whilst still an infant, many signs and symptoms of the disease can be present, such as progressive muscle weakness, diminished muscle tone, and respiratory deficiency. This can result in the infant not surviving past the age of 2. Treatment for the disease usually begins after birth, but the treatment does not prevent irreversible damage.

The disease affects less than 1 out of 138,000 babies born globally, and it is caused by genetic changes that either reduce or prevent the body from making acid alpha-glucosidase or GAA. This enzyme turns glycogen into glucose, and without the enzyme, glycogen accumulates to dangerous levels that can affect a baby's muscle tissues, such as the heart and muscles. After early studies with mice suggested that treatment for a Pompe-like disease could be controlled before birth, doctors and researchers launched an early-stage clinical trial. The trial team began treating Ayla by infusing GAA through the umbilical vein when her mother was 24 weeks pregnant. She was infused six times before birth, and the medical team has been infusing Ayla weekly after birth, though she will need to continue treatment throughout her life.

In my opinion, I wonder if other genetic conditions or diseases can be treated once detected in the womb. If this clinical trial showed me anything, it is that with new technology and techniques, we are getting closer to being able to treat and prevent many diseases from worsening.

Hair Straightening and Uterine Cancer


Research conducted by the National Institutes of Health (NIH) has discovered that chemicals found in some products used to straighten hair could increase a woman's risk of developing uterine cancer. A study was performed over the course of 11 years with over 30,000 women between the ages of 35-74. Throughout this time, 378 women were diagnosed with uterine cancer. Women who use these products occasionally (less than 4 times per year) have a 1.64% risk, which is statistically insignificant. Those that use the products more than 4 times per year have about a 4.05% risk of developing this disease by the age of 70. Upon further exploration, surprisingly, there were no associations found between uterine cancer and other popular hair techniques (highlighters, hair dyes, perms, and bleaches). This was a particularly interesting finding because there is typically a higher risk for other cancers associated with permanent dye use.  

In the study, about 60% of the women diagnosed with uterine cancer self-identified as Black. It is hypothesized that this is due to the higher product use, so their exposure to such chemicals would be more prominent. While our bodies have mechanisms to metabolize and eliminate these chemicals, regular exposure to them can have dangerous consequences to one’s health. The location of absorption plays a big part in this situation, the scalp, where most chemicals and hair straighteners are applied, can absorb more chemicals than other parts of the body. These chemicals can do many things to the body but one of the most concerning is the alterations done in the genetic coding of cells which can result in cancerous growth. The article goes further into detail about the chemical ingredients in the products causing disruptions, some of which have been associated with cancer and disturb endocrine compounds affecting body functions, fertility, and puberty. 

This study on how chemicals found in hair products could lead to uterine cancer is not meant to scare women to stop using straighteners. Rather, to educate and caution against the overuse of these products. There is still further research needed on the relationship of the products and their impact on different races, nevertheless, this article was definitely an eye-opener.  

Sweet Taste Receptors Regulate Proteins in Developing Drosophila

 


Drosophila melanogaster relies on contact chemosensation to detect nutritious foods, avoid ingesting toxic chemicals and choose mates and safe places to deposit eggs. Flies sense tastants and scents through gustatory bristles and pegs distributed on multiple body parts, including wing margins and legs. The sensillum's gustatory receptor neurons express 68 gustatory receptors (GRs). Unlike mammalian chemosensation, functional Drosophila GRs may include three or more subunits. Many GRs seem to be expressed in multiple cell types that are not associated with contact chemosensation, raising the possibility that these proteins may have roles that extend beyond the detection of tastants and scents. 

Researchers have found that a cluster of genes encoding 6 receptors, known as gustatory receptors 64 (GR64s), was overexpressed in epithelial cells of mutant larvae, which experience cellular stress as a result of a buildup of dysfunctional proteins. To further investigate, the researchers rendered GR64 function in larval epithelial cells that contained stress-inducing mutations. Losing the taste receptors resulted in a large amount of death among the stressed cells. They found that the loss of GR64s prevented the cells from digesting accumulated proteins via autophagy compared to cells with functioning receptors, indicating that the receptor cluster may have something to do with cellular homeostasis. In their normal role as taste receptors, GR64s oversee calcium flow,  involved in protein regulation. Furthermore, the researchers found that calcium influxed into mutant cells has less activity in GR64-free cells compared to controls, making calcium signaling a common candidate for how receptors may maintain proteostasis. 

It was very intriguing how the researchers identified the nonconical role of gustatory receptors in proteostasis maintenance for their function in neuronal sensation. Although, the article did not fully connect calcium activity to protein regulation. Regardless, calcium activity is an important unknown for a proper understanding of how this receptor functions. 


A multivalent mRNA influenza vaccine

In a recent study discussed in the article; A multivalent nucleoside-modified mRNA vaccine against all known influenza virus subtypes, a new vaccine was developed and encodes hemagglutinin antigens from all of the twenty known influenza A and B viruses and their subtypes and lineages. Seasonal influenza vaccines vary in effectiveness due to the difficulty in predicting what influenza virus subtype will be prevalent. The new mRNA influenza vaccine showed protection against the antigenically variable influenza virus by inducing antibodies against the multiple antigens. Not only do multivalent vaccines work for influenza but are now also being used to battle the new COVID-19 variants. According to Paul C Guest  in order to manage the pandemic more effectively a multivalent vaccine needs to be made that recognize the mutated regions in SARS_CoV-2 spike protein. 

As an individual entering the healthcare profession it is vital to know how the influenza vaccine works and how it protects individuals from the virus. I find it astonishing that people within this profession are able to still improve vaccines that have been around for so long and as a community we are close to being able to have one shot that protects from most influenza A and B subtypes. Influenza has a large death rate for elderly and as someone who sees geriatric patients daily I am happy a solution is being presented for extra protection for them and others. 

Mouse Brains Fight Infection Thanks to Ancient Viral DNA

Remnants of ancient viral DNA are still active in the genomes of animals today. In this study, researchers suggest they have characterized 2 retrovirus-derived genes, which fight infections in the brains of eutherians (mammals who give birth birth to live young). Dr. Kaneko-Ishino, a geneticist at Tokai University in Japan, and their colleagues discovered 2 RTL (retrotransposon Gag-like) genes RTL5 and RTL6. Genetic engineers attached fluorescent proteins to the end of the RTL proteins in mice and found RTL5 and RTL6 were localized in immune cells in the brain called microglia. The signal was weak, so Dr. Kaneko-Ishino decided to enhance the signal by injecting fluorescently labeled toxins (LPS and nonmethylated DNA and double-strand RNA) directly into the mice's brains. The researchers conclude that after LPS injections a sharp increase in the amount of RTL6 proteins in the brain at injection site was present. Moreover, LPS existed longer in the brains of RTL6 knockout mice than their normal counterparts. Furthermore, RTL5 knockout mice were slower at clearing double-strand RNA. Thus, Dr.Kaneko-Ishino hypothesized the 2 RTL proteins could clear out pathogenic substances during infection. However, RTL6 and RTL5 gene expression levels did not increase even in the presence of toxins and that they "...seem to be expressed all the time" (Kaneko-Ishino) 

    In my opinion, the study was interesting, however I think more could have been done. For example, the study could have included observation whether the gens are only expressed in microglia only or in immune cells too. I find it fascinating Dr. Kinoko-Ischino's work took over three decades. I wonder if it would take the same time if they were to begin their research today?

This Genetic Disorder was Treated While the Child Was Still in The Womb

 

A child was treated in utero for a genetic condition called Pompe disease. This genetic disease causes organs to become damaged prior to birth. The cause of this genetic disorder is due to reduced or no production of the enzyme acid alpha-glucosidase(GAA). GAA turns glycogen into glucose and without it glycogen accumulates causing damage to muscle tissue. People with Pompe disease normally die before the age of 2 years old. Ayla was treated for this disease while still in the womb. They treated for this by infusing GAA into the umbilical vein once every two weeks for a total of 6 infusions. After she was born she started receiving these infusions and will need to keep receiving them for the rest of her life. It was shown that this treatment was effective, as Ayla is now 2 years old and is meeting normal milestones. She has a normal size heart and is able to walk. 

 

This research is very important because it paves the way for treating certain genetic disorders before a person is even born. This can cause their condition to be much more controlled when they are born and much more manageable after they are out of the womb.

MicroRNAs discovered as direct relation to intelligence in octopus brain

Octopuses also referred to as soft bodied cephalopods are invertebrates with a very complex nervous system. In a recent study referred to in the article; MicroRNAs are deeply linked to the emergence of the complex octopus brain , elevated RNA editing in the nervous tissue was related to RNA regulation and the large role it plays in cognitive function and success among this species. More specifically the miRNA were expressed more frequently in the adult's neuronal tissues and during development suggesting that the miRNAs are in direct correlation with the evolution of complexity in animal's brains. 

In agreeance that microRNAs are a key contributor to complexity in brains is Michael Le Page in the article; Octopus brains may have become complex the same way human brains did. High intelligence in many species is being directly correlated with high numbers of microRNAs and their ability to generate different types of neurons. Although, these invertebrates evolved completely separately from invertebrates the microRNAs both became present in animals with complex brains. I find it important to recognize others species intelligence and brain complexity in order to understand how humans and other species evolved into todays present species. It is also important moving forward how it will increase complexity and in what species. 




 

Saturday, November 26, 2022

Illness Treated In Womb By Gene Therapy


Doctors completed a new type of treatment for the first time for a patient affected by Pompe Disease. Pompe Disease is a condition where the body can't break down Glycogen. A mutation in an enzyme responsible for Glycogen breakdown prevents it from operating, and Glycogen levels build up in the body. Normally when an infant is found to have the disease it is treated with new enzymes right after birth. The new enzymes will fill in for the non-functioning ones, and Glycogen can be managed. Sometimes the body rejects the new enzymes, however, and if the disease is not treated it is usually fatal to children within a year. 

While treatments have existed before for Pompe Disease, this was the first time the treatment was carried out with a baby before birth. The patient's name was Ayla and doctors inserted a needle into her mother's abdomen and guided it to an umbilical cord vein so the life-saving enzymes could be administered to Ayla. Ayla is now one and a half years old and still goes for weekly drugs and enzymes to help her with her disease. But having received the enzymes first before birth the family is hopeful that it strengthens her body's response to the weekly enzymes and helps her to live a healthy and long life. 

I found this article very interesting. I had not previously known about Pompe Disease, but I am glad that treatments for it have been developed and are still being improved. I hope that new advances like this one help to combat the disease further to save the lives of others living with it like Ayla. 

Interfering RNA to Reduce Lipoprotein(a) in Cardiovascular Disease

 


Cardiovascular disease is the leading cause of death and disability worldwide. Lipoprotein(a) is a low-density lipoprotein variant containing a protein called apolipoprotein(a). High levels of lipoprotein(a) are a causal risk factor for atherosclerotic cardiovascular disease. It also influences inflammatory processes as well as the function of leukocytes, and vascular and cardiac cells, thereby impacting vessels and the heart. Statins form the select therapy with the aim to block cholesterol synthesis, although additional lipid-lowering drugs are required to achieve low-density lipoprotein cholesterol target values. 

A recent study has discovered that olpasiran therapy significantly reduces lipoprotein(a) concentrations in patients with atherosclerotic cardiovascular disease. Olpasiran is a small interfering RNA that reduces lipoprotein synthesis in the liver. The study conducted a randomized, double-blind, placebo-controlled, dose-finding trial in which patients with atherosclerotic cardiovascular disease and lipoprotein(a) concentration of more than 150 nmol per liter were involved. Patients were randomly assigned to receive one of four doses of olpasiran or a matching placebo. After nine months, the lipoprotein concentration had increased by a mean of 3.6% in the placebo group while olpasiran therapy had substantially and significantly reduced the lipoprotein(a) concentration in a dose-dependent manner. 

With cardiovascular disease being the leading cause of mortality and morbidity worldwide, effective and worthwhile therapies to reduce cardiovascular risk are highly needed. In so, I believe that further trials are required to determine olpasiran therapy's effect on cardiovascular disease, not just atherosclerotic cardiovascular disease.  Although from the previous trial on atherosclerotic cardiovascular disease, olpasiran therapy seems to be a promising therapy for individuals with high lipoprotein(a) levels who currently don't have any effective therapies to lower their concentration. 




This New Testing Method May Improve the Speed and Cost of Birth Defect Testing

 


A technique developed by Dr. Zev Williams, may allow for prenatal testing to be done in office. This test takes a few hours rather than a few days so women can get their results a lot faster. Also, the tissues or samples can be tested in office rather than having to be sent out to a lab. Additionally, the testing would cost a couple hundred dollars rather than a few thousand that it normally costs.

 

The test uses nanopore sequencing and small DNA pieced. This test is useful because it can show if there is an extra chromosome or a chromosome missing. While testing this device they found that this test yields very accurate results when matched with the current testing results. When they tested miscarriage samples, they actually found that the current testing method had wrong results. 

 

This was a very informative article. It is very interesting that there is a much faster, cost friendly, and more accurate way for prenatal testing and tissue testing.  This testing method will be very useful for women in understanding what could potentially be wrong with their fetus or what may have caused their miscarriages. 

Immune pathway shows benzoyl peroxide absolves acne

 

Abigail Eisenstadt discovered that benzoyl peroxide is able to squalene's effect on immune cells that are attacking acne bacteria. A relationship between the  immune system and acne was observed by RNA sequencing and Modlin and colleagues macrophages, or white blood cells, which rush to sites of infection to engulf intruders. Macrophages use oxidation to kill bacteria on the skin. Since the benzoyl peroxide is an oxidizing chemical, it can be harnessed to kill acne-causing bacteria when natural macrophages cannot. Finally the a renounced dermatologist recognizes benzoyl peroxide's ability to reduce redness and combat acne. 

I find this information very useful for younger individuals that are battling acne and the side effects it causes. Many teenagers going through puberty struggle with acne and do no know the most effective way to combat it is. In addition, it is important to know what is scientifically proven and was is used as marketing for consumption. 

Friday, November 25, 2022

Ancient DNA Sheds New Light on Africa’s Stone Age

 A study presents genome data from 3 individual, who lived in the Late Pleistocene, between 12 and 120 thousand years ago. The oldest individual was excavated in 2010 by Dr. Elizabeth Sawchuk, a bioarcheologist at the University of Alberta, and the other two individuals were excavated by Dr. Jessica Thompson, an anthropologist at Yale University. DNA extraction was less challenging than expected because the fossils were found on rocks inside a cave in Tanzania. Around 50 thousand years ago, an archeological change is seen- people started creating "trade networks". For example,  obsidian, a type of stone seen to be used in creating tools, was moved over long distances. With ancient DNA found on the stones, scientists were able to conclude the time around which humans began using and moving obsidians. It's fascinating to learn researchers were able to extract DNA from samples, given Africa's extreme weather destroys DNA. Also, this research explains how "globalization" worked then- people were moving long distances and creating families far from their birthplaces, thus changing genetic landscape.

Thursday, November 24, 2022

Discovery proposes new way to target mantle cell lymphoma

 


Mantle cell lymphoma is a rare type of B cell non-Hodgkin lymphoma (NHL). NHL is a cancer of the lymphatic system. The lymphatic system has tubes that branch all over parts of the body. It transfers a colorless liquid, the lymph, and circulates it around the body tissues.  This liquid holds a large number of white blood cells (lymphocytes) that fight infection. When you have lymphoma, some of your lymphocytes do not work properly. This is, they start to divide constantly, but don't fully develop, losing their ability to fight infection. There are two main types of lymphocytes: B cells and T cells. Mantle cell lymphoma affects B cells and develops in a part of the lymph node called the mantle zone. These abnormal lymphocytes collect in body organs or lymph nodes, form tumors, and begin to create problems within the lymphatic system or the organ in which they are growing. 

Mantle cell lymphoma (MCL) is critically dependent on a protein that coordinates with gene expression.  A recent research study has found that blocking this activity with an experimental drug adequately slows the growth of the lymphoma in preclinical tests. Through gene-editing technology on arrays of mantle cell lymphoma grown in the lab to block different transcription factor proteins. Transcription factors are proteins that bind to DNA and work as programmers of gene activity. This process revealed many transcription factors whose disruption caused a severe slowdown in MCL division without slowing the growth of other cell types. One that worked as a critical factor in sustaining the pattern of gene activity in MCL is FOX01. A biotechnology company had tried to develop FOX01-inhibiting compounds to possibly use in the treatment of type 1 diabetes. Researchers found that it also had similar effects on MCL cells as blocking genetic means. In the study, it was found that adult mice tolerated a month of FOX01-inhibitor treatment with no major side effects. 

There is a strong need for better therapies against mantle cell lymphoma and I believe that this study's findings to inhibit FOX01 could be an effective strategy to try alone or in combination with other drugs for more durable responses. If a drug that blocks this protein's activity and slows down the growth of lymphoma is put on the market for treatments for MCL, it will truly save many lives.  

Genetic Markers Help Identify Banana Ancestors

 

In their search for the ancestors of modern day bananas, botanists and researchers have determined there to be at least three wild banana ancestors responsible for all the various types of bananas found around the world today, represented on the diverse banana family tree. The catch of course is these ancestors have yet to be found. An analysis of modern day banana's genetic material have lead Botanists like Julie Sardos and colleagues to pinpoint genetic markers on their DNA which in turn help with tracing this fruit back to its ancestors. The bananas we commonly see in grocery stores are really a product of years and centuries of crossbreeding and domestication. They only produce sterile seeds and therefore must be grown as hybrids using clones. Since they are all genetically identical, they have low genetic diversity and are susceptible to diseases and higher risks of going extinct. It is for this reason, Botanists and researchers have set out to find the ancestral bananas in hopes that their discovery would mean finding ways to strengthen the crops of modern breeds against threats to their very existence.  

This article is really about how genetic markers found on the DNA samples of numerous types of bananas made it possible to identify the genetic sequences of at least three unknown ancestors. Interestingly enough, we are currently learning about genetic mapping in class and this article connects really well with the topic because genetic markers, according to the National Human Genome Research Institute, are like landmarks in a geographical area. Landmarks are features which mark the area they are in making the area stand out as unique from others. They are helpful when we need to find our way back to somewhere. They are the big red X's on a treasure map that pinpoint the location of the treasure. Hopefully these genetic markers will help researchers successfully find these mysterious banana ancestors and save bananas from threats to their extinction. 


Wednesday, November 23, 2022

A Discovery in the Field of Epigenetics

 Our DNA is the blueprint to "building" our bodies and adjustments to the blueprint can be made by epigenetic marks. These marks are DNA modifications that do not change the underlying genetic code but include extra information on top of it, which can eventually be inherited. Epigenetic marks regulate gene expression and suppress transposons (also known as "jumping genes") that can threaten the integrity of one's genome.  Dr. Irina Arkhipova, senior scientists in the Marine Biological Laboratory's Josephine Bay Paul Center, shares a bacteria named bdelloid rotifers, found in small freshwater animals, has been discovered to contain a novel epigenetic mark. This was measured to have happened about sixty million years ago. "This discovery marks the first time that a horizontally transferred gene has been shown to reshape the gene regulatory system in a eukaryote" says Kenney, author of the article. According to Dr. Arkhipova, horizontally transferred genes are known to preferentially be operational genes and not regulatory. In my opinion, this event is fascinating- how a single, horizontally transferred gene can form a whole new regulatory system, when the existing regulatory systems are already complicated. A piece of bacterial DNA and eukaryotic DNA become joined in the bdelloid rotifers' genome and they form a functional enzyme. 

Research Findings entail the Significance of Quantum Tunneling in DNA Mutation

 A new study reveals that quantum physics can cause mutations in our DNA |  University of Surrey

Researchers specializing in quantum mechanics find that the speed of the enzyme, DNA Helicase, could facilitate the occurrence of quantum effects in point mutations. Point mutations are caused by DNA base deviations. These deviations could entail an insertion, replacement, and rearrangement of the standard DNA base sequences of adenine and thymine or cytosine and guanine. It is from these deviations of DNA base sequences that mutations and various genetic complications arise. As noted from research findings, previous conclusions around the causes of point mutations did not focus on the idea of Quantum tunneling, because of the speed in which DNA replication occurs. However, despite previous conclusions, advancements in chemical quantum calculations have shown that DNA replication’s speed is fast enough to allow for quantum mechanics to exist. These findings warrant the reinforcement of modern conclusions around the cause of the point mutations and genetic discrepancies from DNA replication, which can be beneficial in conceptualizing genetic mutation.

Overall, I found the information in the article to be very informative. Prior to reading the findings of the experiment, I was not exposed to the concept of quantum mechanics, especially in application to genetic mutation. Given this, the article provided me with the different perception on genetics and the role that physics plays in DNA replication.


Genetic Risk for Alzheimer's

 

    Those with the gene variant, APOE4, are more likely to develop Alzheimer's disease and  through genetic testing, can be a way to find out if you have it. The APOE gene is important for formation of protein that carries cholesterol throughout the bloodstream and has 3 different variants. Scientists learned that depending on which variant you have will help determine the chances of developing Alzheimer's, APOE4 having increased risk, APOE3 being the more neutral/common type, and APOE2 having decreased risk. Since ~25% people carry one of the increased gene variant, APOE4, their chances of acquiring Alzheimer's is increased by 2-3 times and even more if said person has 2 or more copies of APOE4. 

    Even though it is a chance so it is not a guaranteed thing that you will acquire Alzheimer's and vis-versa where if you don't have the increased chance you can still get the disease. There are many ways to help reduce the overall chance such as being active, a good diet and limiting alcohol consumption. Things such as age and family history play a major role on whenever you have a high likely of acquiring the disease as they can not be changed and have a greater impact on your chances but being conscious and taking steps can be vital. 

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New mRNA technology discovered


 

A team of researchers at Hong Kong University of Science and Technology have recently discovered a new way of synthesizing mRNA that can increase its protein production by up to ten times. The group found that by editing tail sequences of mRNA, they can increase the amount of protein created from mRNA and increase the duration of protein synthesis. This new method could be used to increase the effectiveness of mRNA-based vaccines, including the COVID-19 vaccine. The group is now looking into its use for vaccines for cancer treatment. 

This discovery sounds like it will be extremely valuable. I was especially interested in the uses for the Covid vaccine. The article said that in theory, this technology could be used to increase the effectiveness of the Covid vaccine and make it so that the required doses are less frequent. That would be a great breakthrough in healthcare, if the technology works as intended. More effective cancer treatment vaccines is also a promising thought.

Article

Height Linked to Genetic Variants


The largest genome-wide association study conducted, which was published in the journal Nature, used DNA from nearly 5 million individuals from 281 contributing studies. Of the individuals used, more than one million were of non-European heritage, which included African, East Asian, Hispanic, and South Asian. There were 12,111 genetic variants that offered a strong genetic predictor of height in individuals. The identified variants accounted for 40% of height variance in individuals of European ancestry, with 10-20% of height variance in non-European individuals.

The findings could help doctors identify individuals who are not able to reach their genetically predicted height, and could help in the diagnosis of hidden genetic conditions and diseases that impact height. The research done also has the "blueprint" for how genome-wide studies can be used to identify the biology and hereditary components of diseases.

After reading the article, I was astonished to find that there are many different variants and genes that affect how tall a person is. From previous knowledge, as well as the use of the internet, I knew that tall parents produced tall offspring, short parents produced short offspring, and a mix produced offspring of medium height. Though, I did not know that there were more than 12,000 variants that do so.

Tuesday, November 22, 2022

Yersinia Pestis and ERAP2

   

The Black Death was the major cause of death in recorded history. Recent research suggests the Black Death has "...placed a significant selective pressure on the human population, changing the frequency of certain immune-related genetic variants and affecting (people) susceptibility to diseases today" The Black Death was caused by the bacteria Yersinia pestis. The disease killed between thirty to sixty percent of Europeans, North Africans and Asians. Dr. Luis Barreiro, Ph.D., Professor of Genetic Medicine at the University of Chicago, and participants in his study, examined ancient DNA samples from bones of over two hundred individuals from London and Denmark, who died before, during and after the plague. By using targeted sequencing for a set of 300 immune-related genes, the scientists discovered four genes that (while depending on variant) either protected against or increased susceptibility to Yersinia pestis. The team concentrated on one gene with a particularly strong association to susceptibility: ERAP2. Furthermore, individuals, who had two copies of one specific genetic variant, dubbed rs2549794, were able to produce full length copies of ERAP2 transcript (Barreiro 2022) Thus, producing more of the functional protein, compared to a different variant that led to a shortened and non-functional ERAP2 transcript. In addition, the research team tested how the rs2549794 variant affected the the ability of living human cells to help fight the plague, concluding microphages that express two copies of the variant were more effective when neutralizing the bacteria Yersinia pestis. It is fascinating to read and understand the significance of the experiment. Having access to ancient DNA and sequencing technologies to observe the unique characteristics of the organisms is captivating. To me, Genetic Medicine is compelling. It is the meeting point of science and human history. Who are we? Where do we come from? Why do we act the way we do? How much of this information can I deduce from my DNA? Those are questions that the methodology, philosophy and history of genetics and medicine urge me to seek answers. 

The Progression of Gene Therapy Intervention for Sickle Cell Disease

  

    Sickle cell disease affects thousands of people throughout the globe and is recognized to be prevalent in African populations. Early clinical trials centered around gene therapy for sickle cell disease have been researched by geneticists since the 1990s.The intent of gene therapy for sickle cell disease is to correct genetically modified dysfunctional hemoglobin that leads to the development of structurally altered red blood cells that block blood vessels and lead to complications in organ function. The ultimate goal of research trials centered around gene therapy intervention for sickle cell disease aimed to stimulate the body’s ability to produce fetal hemoglobin by insertion of microRNA. Through insertion of the microRNA into the body, the dysfunctional protein known to alter red blood cell structure was corrected and fetal hemoglobin was successfully produced.

From the research and clinical trials around microRNAs potential to alleviate symptoms associated with sickle cell disease, six participants of the study were shown to have successful outcomes. The research results provide a possible cure to sickle cell disease and hope to many who inherited the illness. 






















New Zealand Targets Cow Burps to Help Reduce Global Warming

 

 

 


 Since cows can not properly digest grass like how we normally think they digest it, they have special bacteria in side their stomachs that allow them digest it but in turn results in a by product of methane gas. This is one of the many ways that is impacting and increasing global warming as cows produce almost 220 pounds of methane yearly. Farm animals contribute to almost ~16% of greenhouse emissions. To combat this, scientist in New Zealand are doing techniques to cows such as selective breeding, genetically modifying the feed, implementing methane inhibitors, and even giving a vaccine.

 Every time we eat meat, there is an environmental cost that is involved, so humans are once again helping contribute to the global warming crisis. Even with steps to combat this situation, and things such as the vaccine not being ready any time soon, the other preventive measures being implemented can greatly help reduce global warming 


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Doppelgängers Share Similar Genes

 


A photographer, Francois Brunelle, has a picture series called “I’m not a look alike”. This series is photographs of doppelgängers. Dr. Manel Esteller used participants in this photography series and studied their genetic relationship. Facial recognition software showed that the similarities in their faces received scores close to identical twins. Dr. Esteller found that these people share a significant amount of genes. They also tested their epigenomes and microbiomes which were very different.  They concluded that their similar appearance was due to similarities in DNA and not their environment.  

 

This article was interesting because there are people that are not related however, they share many of the same genes and look so much alike. The article also discusses that because these people have similar genes, they can also have similar behaviors. I found it fascinating that people who have no relation to each other can have such similar DNA. Much more research can be done on this topic regarding genetics and psychology.

MicroRNAs Can Improve Gene Expression


 MicroRNAs are a class of non-coding RNAs that play an important role in controlling gene expression. That is, they help cells control the types and amounts of protein they make. MiRNA mainly controls gene expression by binding with messenger RNA(mRNA) in the cell cytoplasm. Instead of immediately translating, the marked mRNA will either be destroyed or have its components recycled, or preserved and translated later. In addition, if the level of a specific miRNA is underexpressed in the cell, the protein that is normally regulated will be overexpressed in the cell. In so, they are inversely proportional.  

A recent research study aimed to better characterize miRNAs involved in glycosylation by probing the miRNA of two glycosylation proteins: ST6GAL 1 and ST6GAL 2. It was previously found that ST6GAL 1 is overactive in pancreatic cancer, interspersing cancerous cells' membranes with 2,6-sialic acid. To determine how miRNAs adjust enzyme expression, a sensor was developed using a gene's regulatory region(where miRNA binding occurs) and a sequence coding for a fluorescent protein. The sensor was expressed in dividing cells. If miRNAs inhibited a protein's translation, the cells' color dims, while if it turned up gene expression, the cells glow brighter. It was discovered that the miRNAs that interact with ST6GAL 2 downregulate its expression, while those that interacted with ST6GAL 1 increased its expression, also increasing levels of 2,6-sialic acid. Mutating potential miRNA binding sites caused upregulation to disappear, proposing that miRNAs directly control gene expression.

This discovery is a major innovation in cancer research. This is because abnormally low levels of miRNA can lead to overexpression in genes that miRNA regulates, leading to cancer development. The correction of these specific miRNAs can normalize the gene regulatory network and signaling pathways, and reverse the phenotype in cancerous cells. 





Monday, November 21, 2022

The Black Death: An Evident Natural Selection Occurrence

 


    Researchers and geneticists across the globe have been cultivating research and observations centered around the evolution of the human specie’s immune system in response to the Black Death. The Black Death, known by many historians to be one of the most fatal pandemics to ever occur across the world, is a disease caused by Y. pestis During the era of the Black Death, millions of people who were infected by disease suffered from mortality. From the DNA samples of those that lived during the Black death, information was concluded about the particular gene, ERAP2, offering an advantage for survival during the era of the plague. The people who survived during the plague were often those who exhibited two functional copies of the gene of interest. Given this, the survival of those who inherited two genes of ERAP2 were passed down to future generations, which revolutionized the human immune system today. It was noted, from the conclusions of the experiment, that the evolution of the immune system in response to the Black death has been associated and linked with the development of autoimmune disease. 

    Overall, the conclusions proposed from the experiment were very insightful. The genetics research, which focused on the history of adaptation and natural selection of genes  contained within the article, provided a different perspective on the human immune system and its susceptibility to disease. 


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