Breakthroughs in Genetic Linkage for Specific Form of Alzheimer's Disease

Alzheimer’s Disease has been an increasingly relevant topic in modern genetics research as cured and treatments are further researched. The concurrent gain in traction related to this ailment has continued to carry momentum as a study had recently determined a major correlating-linkage between the APOE gene and the onset of Alzheimer’s Disease at predictable age ranges. The cited study reports that individuals of European descent (primary source of data in study) who are homozygous for the APOE4 gene makeup only approximately two percent of the “overall population” but present approximately fifteen percent of AD (Alzheimer’s Disease) cases. 

In my opinion, this research is becoming increasingly significant and productive, and should be further pursued. Not only is it discovering correlative connections between genetic markers and variants with catastrophic ailments, but it improved our general understanding of the expression of mentally degenerative diseases as a whole. Ailments like Alzheimer’s Disease are potently destructive on human connections and vicious to the physical and emotional state of its victims, both direct and indirectly. Finding methods of prevention, alongside assistive or curative treatments is a major societal pursuit and should be continued enthusiastically. 

Links:

https://www.nih.gov/news-events/nih-research-matters/study-defines-major-genetic-form-alzheimer-s-disease

https://news.harvard.edu/gazette/story/2024/05/new-alzheimers-study-suggests-genetic-cause-of-specific-form-of-disease/

Song Bird Tunes Linked to Genes

A study done by Kazuhiro Wada (neuretuologist) interbreed zebra and owl finches and looked at gene expression of the offspring. About 10% of the gene expression in the song nuclei were expressed differently between the two species, which could explain different songs in different birds. Another study was done where baby zebra finches were raised with adult owls to see if their songs would be influenced, but it was not. They did mimic the owls partly, but there were still characteristics of their own species song. This can suggest that genetics play a role in different songs.

I do agree and believe the research that was conducted is correct. I think it is extremely fascinating that many birds have these characteristics because of genetics. I see it as a natural instinct, rather than a choice they are making. Sometimes species do not need to be taught to do something, but it is because of what they are and I think that the research conveys that.



https://www.the-scientist.com/image-of-the-day/image-of-the-day--species-specific-songs-66718

Related Article:
https://www.sciencedaily.com/releases/2019/11/191112140902.htm

Can Depression be Eliminated?

Suicide rates have grown higher and higher, as depression has as well. There may be a biological reason as to why some people are more susceptible to depression than others. Jonathon Flint hopes to find genetic links to depression and cut down on this mental struggle significantly. He hopes by the end of this century depression can be completely cured.

I think that depression can be linked to some people genetically, but depression can also be caused due to current events happening in someone's life. Everyone experiences sadness throughout their lifetime and some people have harder lives than others, making them more susceptible to depression. Sometimes depression seems to run in families and I think this may be due to genetics. It is great that there is research being conducted on this topic to help people with predetermined depression and hopefully he is successful.



https://discovermagazine.com/2019/november/prognosis

Related Article:
https://www.healthline.com/health/depression/genetic#curing-depression

Inosine could be a potential route to the first RNA and the origin of life on Earth

It's alluring to pursue our inception story. However, this interest can bring something other than excite. Learning of how Earth assembled its first cells could illuminate our look for extraterrestrial life. In the event that we distinguish the fixings and condition required to start unconstrained life, we could look for comparable conditions on planets over our universe.

Today, a great part of the cause of-life explore centers around one explicit building square: RNA. While a few researchers trust that life framed from more straightforward particles and just later developed RNA, others search for proof to demonstrate (or discredit) that RNA shaped first. A complex yet flexible particle, RNA stores and transmits hereditary data and incorporates proteins, making it a competent possibility for the foundation of the principal cells.

To check this "RNA World Hypothesis," specialists confront two difficulties. In the first place, they have to distinguish which fixings responded to make RNA's four nucleotides - adenine, guanine, cytosine, and uracil (A, G, C, and U). What's more, second, they have to decide how RNA put away and duplicated hereditary data with the end goal to repeat itself.

Up until this point, researchers have gained critical ground discovering antecedents to C and U. However, An and G stay slippery. Presently, in a paper distributed in PNAS, Jack W. Szostak, Professor of Chemistry and Chemical Biology at Harvard University, alongside first-creator and graduate understudy Seohyun (Chris) Kim propose that RNA could have begun with an alternate arrangement of nucleotide bases. Instead of guanine, RNA could have depended on a surrogate - inosine.


Link 1
Link 2

Ancient DNA Maps Early American Migrations in New Detail

Hereditary data from many people living 700 to 10,000 years prior uncovers associations among Clovis and Native Americans and South Americans.

Early populaces of people in the Americas had indistinguishable family line from present day Native Americans, as per considers distributed today (November 8) in Cell and Science. The information disperse any thoughts dependent on the skull states of a couple of antiquated remains that early populaces were not identified with present day Native Americans and give more intimations about the influxes of individuals who moved from North America to South America a huge number of years back.

The two examinations consolidated broke down the genomic information of in excess of 60 people who lived in the terrains among Alaska and Patagonia 700 to 10,000 years prior. In view of the restricted information preceding this work, "the [genetic] models that we've been utilizing to clarify the peopling of the Americas have dependably been distorted," Jennifer Raff, an anthropological geneticist at the University of Kansas in Lawrence who was not engaged with the examinations, tells Science. Be that as it may, adding genomes to the dataset permitted two groups, one driven by Eske Willerslev, a transformative geneticist at the University of Copenhagen, and another by populace geneticist David Reich of Harvard Medical School, to elucidate the image of how human populaces moved about the Americas centuries prior.

Willerslev's information, detailed in Science, demonstrate that "this is our country, these are our precursors," Rochanne Downs, the social facilitator of the Fallon Paiute-Shoshone Tribe in Nevada, where the group gathered a portion of the information, tells Science. Willerslev's group analyzed the hereditary information of 10,700-year-old stays from the Spirit Cave, which the Fallon Paiute-Shoshone Tribe had been endeavoring to repatriate, to that of 12,700-year-old stays from an Anzick tyke from Montana and found a related family line.

Read the full articles by clicking the links below:
Link 1
Link 2

A Genetic Linkage to Alcohol Withdrawal Symptoms

 

   It has previously been established that there is a genetic linkage between our genes and the tendency to consume alcohol, but in this genome-wide study, researchers have linked genetics to the severity of alcohol withdrawal symptoms. This is a relevant research area given that nearly 16 million Americans are affected by some kind of alcohol disorder. Alcohol acts as a depressant to our central nervous system, and when an addiction is formed our brain gets used to constantly working harder to be more alert. Many people that try to break their alcohol addiction suffer from withdrawal symptoms, such as anxiety, shaky hands, nausea, and vomiting. Previously it was thought that the level of drinking and the duration of the addiction were large factors on the severity of the withdrawal symptoms, but this study now reveals a genetic link to the severity of withdrawal symptoms.

     The study was a genome-wide association study, which analyzes complete DNA sets across various populations. Specifically, the study found that variations in SORCS2 gene were highly linked to severity of alcohol withdrawal symptoms. The reasoning behind this is that variations in the SORCS2 disrupt stress-related mechanisms in the hippocampus of the brain. This means when this variation is active, the central nervous system is hindered and unable to adjust to the sudden cessation of alcohol intake. Another interesting finding from the study was that those of African-American heritage do not appear to carry the gene variant, whereas as many as 1 in 10 Americans of European descent carries the variation in this gene.

     As unfortunate as it is, alcoholism is a very prevalent problem in our society that often becomes worse over time and sometimes is left untreated due to the social acceptance of drinking in public places. It is promising to see some research going into an area that could potentially improve the treatment of those suffering from an alcohol-related disease. It is also curious to wonder whether this same gene has any effect on the severity of withdrawal symptoms from other drug addictions to depressants, or if it solely specific to withdrawal from alcohol. I am also curious about the correlation they found between race and the ability to having this variation in the gene. As with any genetic linkage, this also opens the possibility for new genetic-based therapies and the hope that possibly using personalized therapies based on genetics can vastly improve the symptoms of alcohol withdrawal.

Article
Related Article

Is intelligence determined by genetics?

    Intelligence is difficult to study due to the fact that there are an ample amount of variables that influence a person's intelligence. There are also different types of intelligence. The different types include the ability to reason, plan, solve problems, think abstractly, and understand complex ideas. Many studies focus on IQ for a quantitative measurement of intelligence. Based off of the article written by Genetics Home Reference, about 50 percent of the difference in intelligence among individuals are from genetics. Scientist's believe that many genes are involved with intelligence.   However, environment has a huge impact on someone's intelligence.

https://ghr.nlm.nih.gov/primer/traits/intelligence
https://www.nature.com/articles/nrg.2017.104

A Cure for Pulmonary Arterial Hypertension could be in the works...

Illustration depicting the location of Pulmonary Arterial Hypertension

Pulmonary Arterial Hypertension is a specific type of high blood pressure that affects, not only the arteries, but the lungs too. It can cause lifelong symptoms of dizziness, shortness of breath, and chest pain. Researchers at St. George’s University, in London, have identified new genetic markers for this condition. 

            Genome sequencing of 1,038 patients was conducted, to understand its genetic components. The researchers identified three genes for pulmonary arterial hypertension and one gene that puts someone at risk for developing the disorder. Prior to this study, no singular genes were matched to pulmonary arterial hypertension. Without understanding its genome, diagnosis, treatment, and possibly a cure is very difficult to proceed with. 

            With about 200,000 cases per year in just the United States alone, this discovery can lead to new drug development and treatment of this condition. In addition, it can improve diagnoses and treat those with the at risk gene ahead of time, saving their life from uncomfortable side effects.

Link to Article: https://medicalxpress.com/news/2018-04-genetic-treatments-pulmonary-arterial-hypertension.html

Image: https://www.activebeat.com/your-health/treatment-options-for-pulmonary-arterial-hypertension/

Sex Specific Depression Gene Alteration

    Researchers at the University of Pittsburgh Medical school have identified specific gene changes in both men and women who suffer from major depression. The researches noticed a total of 776 differently expressed genes in men with depression and 882 in women but the most interesting part is that of all these different genes only 21 overlapped between the two sexes. In almost all areas where women showed increased expression of a gene men showed reduced expression and vice versa. Due to examining postmortem tissue the Researchers were unable to distinguish to what degree these gene expressions affected the disorder simply that they were there consistently.
  
    This is so important because it opens up new areas to investigate how depression occurs and what can be done to effectively treat it as it affects millions of people across the globe and not every available treatment option works well for everyone. For starters this shows that treatment for men and women may have to differ greatly as they show two distinctly different sets of causes at least at a genetic level that may be key to creating a universal 'cure' to depression. Obviously a lot more work need to be done and other avenues have to be explored but this is a very promising discovery for both genetics and psychology.


Article - https://www.medicalnewstoday.com/articles/321245.php
Study - http://www.biologicalpsychiatryjournal.com/article/S0006-3223(18)30065-9/abstract

Pumpkin Genome Reveals Evolutionary History

      To  begin, I chose an article dealing with the recently passing holiday. Scientist at the Boyce Thomson Institute in Beijing were sequencing pumpkin genomes finding out a huge pieces to the unknown puzzle of genetics. The high functioning pumkin sequencing is sure to have some effect on finding genetic outcomes for agriculture and breeding processes. The two pumpkin species in this test were the Cucurbita Maxima and the Cucurbita Moschata. The overall goal of the experiment was to find specific linkage between genes and traits. The pumpkin has 20 sets of chromosomes which is larger than the average vegetable such as watermelon etc. It was discovered that a pumpkin in the experiment is a paleotrapoid because it is made of two ancient genome sequences.  "We were excited to find out that the current two sub-genomes in pumpkin largely maintain the chromosome structures of the two progenitors despite sharing the same nucleus for at least three million years," said Shan Wu, first author of the paper and BT (Sciencedaily.com). 
    Personally, I found this article to be very interesting. There is so much to still discover about genetics. We may know something then find something that alters the information completely. I thought this was a great example of progressive studies in the area of genetics. This article also made me realize that pumpkins are used for a variety of things in other countries not just appraised in October as we do here in the U.S. The Institute does a great job in describing its nutritious value. 









Source: 
Boyce Thompson Institute. (2017, October 30). Pumpkin genomes sequenced, revealing 
      uncommon evolutionary history. ScienceDaily. Retrieved November 6, 2017 from  
      www.sciencedaily.com/releases/2017/10/171030095428.htm

Scientists Discover New Gene that is Driving Drug Resistance



In all of the medications and treatments that are used for breast cancer, no drug is more commonly used then tamoxifen. Recently, scientists have discovered a gene in humans that makes the body resistant to the drug and, in turn, is causing more problems with patients diagnosed with breast cancer. Breast cancer cells need the hormone estrogen in order to grow and multiply, tamoxifen is used to block the receptors that receive this hormone. Scientists discovered that about 50% of the patients that are being treated with the drug eventually become resistant to the treatment. After several trial and error tests, they discovered that the gene NQ01 is the 'trigger' that will determine if a cell survives tamoxifen.

In the resistant cells, tamoxifen actually stimulates the mitochondria in the cell, causing it to fight against the drug. Scientists at the University of Salford used protein profiling, genetics, and metabolism to identify which genes were causing these cells to be resistant to the drug and found that with just the NQ01, a genes drug resistance will be compromised. With this discovery, they developed a chemical inhibitor that sensitizes the tamoxifen-resistant cells. With this discovered, this chemical inhibitor could be added to the medication in order to successfully treat patients with breast cancer. However, this may be an indication that cells are able to become resistant to other cancer-treating drugs that doctors and scientists are unaware about. This shows us just how far we are from finding a cure for breast cancer and all other types of cancer as well.

Links:
http://www.medicalnewstoday.com/releases/316772.php
https://medicalxpress.com/news/2017-04-gene-drug-resistance.html

"Computerized" Lizard Scales

The jewled lacerta, also known as the ocellated lizard, is being studied by scientists because of its scale patterns. These lizards are born with brown bodies and white polka dots, become black and bright green as it ages, and finally is either all black or all green at sexual maturity. Depending on the habitat, the lizard will flip between black and green. This switch is what scientists say “unfold like a computer simulation” (Yin, 2017). A genetics professor from University of Geneva compares the changing scales to a cellular automaton. Cellular automaton is a computer rule-based model. Scientists are testing if this cellular automaton is a genetic or environmental trait.

New York Times Article

Cellular Automaton Explained

Red Hair, Vampires, Red-Headed Irish Leprechaun and Many More

It was historically known that in certain countries and cultures, people who had red-hair were considered to have a bad genetic trait. It was strongly associated with strong-willed, mischievous bullies. ''Gingerphobia'' was a termed that was coined to describe the fear of red-heads and ''gingerism'' is the bullying of or prejudice against redheads. In Egypt, it was known that people who had red hair were burned. People with this color hair have some interesting medical facts; they tend to be left-handed and less sensitive to absorption of Vitamin D. Red-hair is a recessive trait and is often associated with low concentration or the absence of melanin. It a secondary mutation of the melanocortin 1 receptor (MC1R) gene, found on the 16 chromosome. This mutation can be found around the world but it is most common in Scotland. 

This is connected to genetics since this is a genetic mutation. Having red hair is a rare and it was also historically badly seen as a bad trait just like previous or present day rare traits. 

http://health.usnews.com/health-care/for-better/articles/2017-03-17/genetics-the-common-thread-of-redheads-st-patrick-vampires-and-culture

Drosophila effectively models human genes responsible for genetic kidney diseases

Genes associated with Nephrotic Syndrome (NS) in humans also plays a role in the Drosophila renal function, thus making Drosophila a ideal model to understand human disease. NS signals kidney damage symptoms include excess protein in urine, elevated cholesterol, swelling, and low protein in the blood. Researchers have found more than 40 different genes that can cause this specific genetic kidney disease, but gaps still remain in understanding the roles these genes play. Zhe Han a associate professor in the Center for Cancer and Immunology Research at Childrens National has begun studying the NS associated genes in Drosophila. Eighty-five percent of the genes required for kidney function in humans play a big role in flies. They can now be used to identify treatments for kidney disease and learn the function these genes play in the body. There is a need for more model organisms to study renal function. The renal system not only filters and eliminates waste but also indicates immune damage.  Using Drosophila as a model organism is quick, inexpensive , and relevant for this system of study.

https://www.sciencedaily.com/releases/2017/03/170317180606.htm

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3006309/

Schizophrenia Development

Since mental illness is a big topic lately, I thought this would be appropriate. This is a type of disorder that is found to be developed in the womb, and although this site was from a few years ago, there is new evidence of the same kind of information. They have new experiments and new ways to find their information, definitely worth a read. 

OCD-like Behavior Linked to Gene Mutation in the Brain

Honor Whiteman, a writer for Medical News Today, states that "Researchers have provided further evidence of how gene mutations in a certain brain region might fuel behaviors associated with obsessive-compulsive disorder."

OCD is a disorder where the affected have uncontrollable thoughts, obsessions, and/or compulsions. These thoughts can trigger a persons anxiety which makes it difficult for the person to live their daily lives. The compulsions refer to physical urges that are used to respond to the obsessions, some examples of common OCD include excessive cleaning (hands, clothes, etc.), rearranging items in a particular way, or compulsive counting counting. One percent of adults are affected by this disorder, however within that one percent, 50 percent of individuals severely suffer from OCD. The main causes of this disease are unknown, however, previous studies have show that it may be caused by specific gene mutations in the brain. A new study conducted by researchers from Northwestern University found that certain gene mutations in the corticostriatal region of the brain led to OCD symptoms in mice. This region of the brain is responsible for the regulation in repeating behavior. KAR (kainate receptors) genes play a key role in how the corticostriatal region is developed, and when KAR genes were erased in mice they showed numerous OCD-like behaviors.

I believe that the research done on OCD will prove its worth and help the people suffering from the disease. With the discoveries made by the research team at Northwestern, these KAR genes may be a major cause of OCD. With further studies on these genes and the region of the brain that they are located, doctors and scientist could develop treatments or medications in the very near future.

http://www.medicalnewstoday.com/articles/316039.php
https://news.northwestern.edu/stories/2017/february/ocd-like-behavior-linked-to-genetic-mutation/

Is the key to weight-loss in our genes?

According to an article Can we harness our genes to burn more calories? on Science Daily, Obesity Society states “Researchers may have identified a potential pathway in our muscle tissue to improve the rate at which our bodies burn calories”.

Continued studies have shown that our ability to lose weight may not lie entirely on individuals behavior but may lie in their genes. In a study at NIDDK’s Phoenix Epidemiology and clinical research branch a gene expression from skeletal muscle biopsies of 219 people were studied for long term weight loss over several years. In the skeletal muscle they found a gene THNSL2 that had a strong association between low energy expenditure and weight gain. Through this finding they found that an mRNA might be the culprit for manipulating the energy expenditure through inflammatory pathways that related to obesity and energy expenditure. These studies are bringing people closer to understanding why individuals bodies respond differently to contrasting diets.

I think this is an amazing advancement in the field of obesity studies. With obesity rates skyrocketing and the rate of eating disorders on the rise any advancement in what actually defines how our body handles calories is remarkable. With studies like this hopefully we can continue to learn more about the variation in weight gain among people and hopefully this could help find more efficient treatments for obesity and possibly prevent obesity in all. We might finally crack the code as to why some people can eat junk food everyday and perpetually stay skinny, while other people need to exercise and eat right everyday to maintain just to maintain a healthy weight.      

https://www.sciencedaily.com/releases/2016/11/161101093719.htm

http://www.health.harvard.edu/diet-and-weight-loss/exercise-and-weight-loss-the-importance-of-resting-energy-expenditure

The role environment plays in genetic mutation

http://www.seeker.com/nasa-astronaut-scott-mark-kelly-preliminary-results-year-in-space-2235417000.html

http://www.cnn.com/2017/02/01/health/astronaut-twins-study-preliminary-results-trnd/index.html

A study was done to understand how human genes would be affected outside of earth's environment. Identical twin astronauts were used as part of the experiment. One was monitored in space, and the other remained on earth. After 365 days, it was concluded that, no eminent physical change occurred in the one who travelled out of space but his genes altered; possibly due to the regular exercise, to prevent bones and muscles lost in the one out of space.

Having Twins is in Your Genes

For a while, scientists have known that it was highly likely to give birth to twins being a twin themselves, but nobody really knew why.  After conducting studies and collecting data from over 2,000 woman who gave birth to fraternal twins, a number of researchers from multiple countries collectively found two different genes that increased the likelihood of having twins.  Scientists searched for what are called single nucleotide polymorphisms, or SNPs.  The first one they found was linked to a hormone that regulates the release of eggs from the ovaries.  If levels are too high, multiple eggs could be released, resulting in the birth of fraternal twins or other multiple births.  The second gene found, which is still somewhat of a mystery, relates how the ovaries respond to the hormone that regulates egg release.  Not much is known about the gene, but researchers believe it could relate to why some mothers respond better to in vitro fertilization.  I find this type of research fascinating since I am a twin myself.  Knowing that there is another set of twins in my family always made me wonder if it really is true that having twins is linked to genetics, so finding this article was reassuring.

http://www.sciencemag.org/news/2016/04/having-fraternal-twins-your-genes-and-your-hormones

Evidence For Possible Unknown Human Relative Found in Modern Human DNA

     We all know that the Neanderthals and Denisovans are the closest relatives to the Homo sapiens (Modern Human) species. However, genetic evidence in Melanesians (Aboriginal Australians, and natives in New Guinea and neighboring islands) hint that there is a possible third extinct hominid relative.



     While many Neanderthal fossils were found in Europe and Asia, and the Denisovans were discovered from DNA from a finger bone and teeth found in a cave in Siberia, the third possible extinct hominid DNA may been preserved in human DNA, and not in fossil evidence, as reported by statistical geneticist Robert Bohlender on October 20 at the annual American Society of Human Genetics meeting. In 2012, a research team suggested that there were also people in Africa carrying DNA from an extinct hominid ancestor. Less than a decade ago, it was even discovered that early humans mixed with other hominid species. Bohlender and his research team concluded that a third hominid group may have bred with the human ancestors of the Melanesians.

   Eske Willerslev and his research team also came to a similar conclusion. They conducted an experiment in which they collected saliva samples from volunteers for DNA sequencing. The DNA examined was from 83 Aboriginal Australians and 25 natives from Papua New Guinea highlands. The researchers found Denisovan-like DNA, but was found to be different and possibly from another hominid species. Willerslev speculates that this DNA can be from Homo erectus or from the extinct Hobbits hominid species, but he is not a hundred percent sure.

  According to evolutionary geneticist Mattias Jakobsson, researchers don't know much about the Denisovan's genetic diversity. He believes that it was possible that a different branch of Denisovans could have been the group that mated with the Melanesians' ancestors. There geneticists like Elizabeth Blue, that believe that the genetic evidence found from Neanderthals and Denisovans is limited. Denisovans may have been spread around the world and have had genetic diversity. If they weren't however, then the genetic evidence could have come from another extinct species.

     I think that it's fascinating how evolutionary evidence could be found in modern human DNA, and not just in fossils. I hope that after further research, scientists would be able to confirm if this genetic evidence came from another distinct hominid species or just another branch of Denisovans. I also think that this evidence can help us learn more about human evolutionary history, along with that of other hominids.

Links:
https://www.sciencenews.org/article/dna-data-offer-evidence-unknown-extinct-human-relative

http://www.nature.com/nature/journal/v538/n7624/full/nature18299.html?cookies=accepted

https://ep70.eventpilot.us/web/page.php?page=IntHtml&project=ASHG16&id=160122719