Are There Developmental Origins of Autism?

  A relatively recent study conducted by the National Institute of Health on ASD(autism spectrum disorder),  have led researchers to have found several factors that likely contribute to the disorder. However even with certain genetic variations being associated with ASD, researchers still have been unable to identify how these variations shape the development and function of the brain. ASD is a neurological and developmental disorder that encompasses a wide range of symptoms, including but not limited to how people interact with others, communicate, learn, and behave. Symptoms will generally appear within the first two years of life, but can be diagnosed at any age. 

    For this study, researchers investigated the human exome which includes all the exons in the human genome and DNA components that provide instructions for making proteins. While exons only make up roughly 1 to 1.5% of a person's genetic code, they are typically responsible for disease causing mutations. Therefore sequencing an individual's exome can allow researchers to identify certain genetic mutations that are responsible for a disorder/condition. In the context of this experiment, researchers sequenced those with and without ASD to compare their exomes. Data from 35, 584 people was collected, with 11,986 of those people having ASD. The results showed that there was very strong evidence that 26 genes are linked to ASD and another 76 were identified to have correlation to the disorder. Of the 102 genes, 60 had not been linked to ASD before. These findings suggest that there are many more genetic variants associated with ASD than previously thought.

Mutated DNA Fixed in Patients: A Huge Step for Gene Therapy

A recent article by Gina Kolata, published on March 10, 2025 in The New York Times, discusses an exciting breakthrough in gene therapy. Scientists have succesfully fixed a genetic mutation with a single infusion carrying a treatment that precisely targets the mutated gene. This is for the first time that a mutated gene has been returned to normal. This study led by Beam Therapeauticals, focused on alpha-1 antitrypsin deficiency (AATD), which is a genetic disorder that causes serious lung and liver damage and instead of using traditional gene therapy which involve adding or silencing genes, scientists used a special version of CRISPR to edit a single DNA letter, like "correcting a typo" in the genetic code. The patients who received highest doses started making normal levels of the missing protein, which could mean stopping the disease before it gets worse.

        This coud be a turning point in gene therapy, proving fixing faulty DNA inside the body is possible and what's more interesting is that, according to Beam's CEO, John Evans there were no serious side effects. While researchers still have to study long term effects, if further trials confirms it's safety, this could save countless lives and maybe it could pave the way for treating other genetic disorders like sickle cell anemia. The idea of editing DNA, like fixing a typo is something that holds the potential to save many people suffering from genetic disorders.

Tumor Formation in NF1 Patients

 A new Sci Tech Daily article shares recent findings about the formation of tumors in NF-1 patients. According to Johns Hopkins Medicine, NF is a genetic mutation that appears with varying symptoms including skin discoloration, bone deformities, and tumors on nerve tissues. However, a new study shows that genetic changes are probably not the only thing impacting tumor growth. The researchers’ study found that tumor-causing DNA was found in cells throughout the body, so the presence of the gene was not indicative of tumor growth. While most tumors resulting from NF1 are benign, some can grow to be cancerous, so learning about influencing factors could expand treatment options for patients. Although most tumors are noncancerous, they can impact the quality of life, especially if they form in the brain which is common for NF1 patients. Understanding all the forces that lead to tumor formation will help many patients get more tailored treatments as the disease affects 1 in 3000 people and is one of the most commonly inherited diseases so the number is likely to increase. 

I find it encouraging that this research was conducted even though the genesis of these tumors was thought to be understood already. With new discoveries, healthcare and patients’ quality of life can be expected to increase. I’ve heard the saying that every day new discoveries are happening, but this article demonstrates exactly how much better scientists can understand genetics with evolving technology. 

Links

https://scitechdaily.com/why-do-tumors-form-scientists-challenge-long-held-cancer-predisposition-beliefs/

https://www.hopkinsmedicine.org/health/conditions-and-diseases/neurofibromatosis/neurofibromatosis-type-1

Mapping of the Early Skeleton

 

Recently, the development of the early skeleton was mapped in order to create a blueprint of human skeletal development. It was found that cartilage cells grow first and act as a scaffold for bone cells to grow over. This happens across the body except for the top of the skull, called the calvarium. They discovered new types of early bone cells in the calvarium involved in bone development, and they investigated how genetic mutations linked with craniosynostosis disrupt these cells, causing them to fuse early. They also found that genetic variants associated with hip osteoarthritis took place in early bone cell development, while those variants that were associated with knee arthritis took place during cartilage formation. The effects of certain medications on bone development were also mapped.

In my opinion, mapping the development of the human skeleton before birth can be extremely useful for a wide variety of research. By studying how different genetic variants and mutations affect bone development, we can use this to better understand conditions like osteoarthritis and craniosynostosis, and we can work to develop treatments for these conditions. By having a detailed blueprint for the development of the human skeleton, we can base research on both younger and older skeletons on it. We can potentially develop methods to grow bone and cartilage tissue in dishes, providing us the opportunity to develop a multitude of new therapies.

The Lab Results Are In: Genes Might Be to Blame for Retrievers’ Obesity

Labrador retriever dogs are one of the most beloved dog breed. Labrador are known for their intelligence, gentleness and intelligence, to be great service dogs. But Labs are known also for their incredible appetite. Labs will literally put in their mouth and eat anything that they can find. It is estimate that nearly 60 % of all labradors are either overweight or obese. 

People think that this trait in Labrador’s breed is just incorrigible gluttons but turns out it’s in their genes.  Scientists at the Cambridge University in fact, have found studying 310 Labrador that many of them either miss the POMC( pro-opiomelanocortin) gene or part of it. Sequencing of the genome of obese Labrador retriever have shown a deletion of 14 bp with an allele frequency of 12%. The deletion of those bases disrupt the production of β-MSH( melanocyte-stimulating hormone) which is associated with increase in body weight, adiposity and food motivation in Labs. Moreover, the deletion was found on both heterozygous and homozygous dogs  showing that this variant in the genome is carried regardless. 

POMC gene regulates the appetite in some species and to sense how much fat the body has stored. If a dog lack this gene it doesn’t know when its full and had enough food so its just keep on eating. This mutation is also more common in Labradors selected to become assistance dogs which is consistent with their training based on food rewards. Labrador in fact for a food reward would work harder hence the higher success on training them for tasks or jobs. The POMC mutation is not a very widespread mutation the only other dog breed that showed it is the flat-coated retrievers which are cousins of the Labradors. Scientists think that the mutation could be associated to St. John’s water dog which the Labrador descend from. The St. John’s water dog was used from fishermen to retrieve nets from the cold water.  

The POMC gene is also present in humans and some rare cases exists of obese people and absence of POMC gene in humans. The gene mutation found in the Labrador could really help understanding more why and how people become obese or are prone to obesity. It is fascinating to me how silly and sweet dogs like labradors are such a genetic mystery not only from POMC gene point of view but also  from an epistatis point of view. So many gene mutations packed in a dog breed is incredible. 

Prolific Research on Azoospermia

Published in August 2024, the article "A novel missense variant in PNLDC1 associated with nonobstructive azoospermia" discusses a new genetic mutation related to nonobstructive azoospermia, possibly causing faulty meiosis and spermatogenesis. The study was conducted by Mouness Rahimian, Masomeh Askari, and fellow genetics researchers.

The article states that approximately half of all infertility cases amongst couples are due to the male partner, the most common form being azoospermia. There are two types of azoospermia, obstructive (OA) and nonobstructive (NOA). This article focuses on nonobstructive, which has been associated with a number of genes. Through testing mice, the research team discovered that missing the PNLDC1 protein reduces testis size and causes infertility. In humans, the PNLDC1 gene is highly expressed in spermatocytes and having a mutated gene for the PNLDC1 protein results in NOA.

The bulk of the research involves clinical investigation of three men, all of whom were brothers, whose parents are first cousins. Blood samples were drawn, and then DNA isolation and sequencing was completed. A protein model for PNLDC1 was also created. The provided pedigree in the article shows that the infertile men received two copies of mutated recessive allele of the PNLDC1 gene. Siblings who were fertile had two wildtype alleles. A physical exam and karyotype analysis of the men showed normal results.

This was a recent publication that I personally found very interesting due to the clinical investigation subjects, who were all products of a consanguineous marriage. This resulted in three of the couple's children receiving mutated copies of a gene, which were seemingly recessive. This really goes to show that inbreeding depression is real, possible, and detectable even among a population as large and diverse as humans. 

Another great reminder from this article--mutated genes make mutated mRNA, makes mutated proteins, makes mutated phenotypes. One single mishap in the DNA can be fatal. In this case, one missense mutation in a single gene results in infertility or other spermatogenic failure disease. While not so sure if this single gene is the cause of NOA, there is strong reason to believe that the gene and NOA are related.

ARTICLES:

https://link.springer.com/article/10.1007/s12041-024-01478-6
https://www.hopkinsmedicine.org/health/conditions-and-diseases/azoospermia#:~:text=Azoospermia%20is%20the%20medical%20term,sperm%20production%20by%20the%20testis.
https://www.rcsb.org/

Mutation Helps Even Carriers of 'Alzheimer's Gene' Avoid Alzheimer's

 

In this article written by Dennis Thompson of HealthDay, published by USNews, the author discusses new research on a cell function-boosting mutation that could help protect even carriers of Alzheimer’s disease from developing it. The mutation causes cells to produce a more powerful version of the protein humanin, which protects against cellular aging. 

Researchers examined over 500 participants, including people 100 years old or nearing 100, and their children. Of these people, they found that 12% of centenarians of Ashkenazi descent carried the P3S variant, which codes for higher levels of humanin. 

They then turned to genetically engineered mice altered to carry the APOE4 gene associated with a higher risk of Alzheimer’s. Researchers treated the mice with PS3 gene-produced humanin. The mice then displayed a marked reduction in amyloid beta, the protein associated with Alzheimer’s that builds up in the brain and impairs cognitive function. This research suggests that the P3S variant may be a reason why carriers of the APOE4 gene avoid Alzheimer’s.  

I found this research to be both fascinating and incredibly relevant to me. My grandmother died of Alzheimer’s, as have many of my other family members. Her caretakers were always giving her medications and I never understood how they helped. This research could lead to future treatments, and as there is a likelihood that I personally carry the APOE4 gene, I find it important to be well informed on the subject. Additionally, I believe it is important for all people to be educated on the disease. It is important to know the signs and symptoms, as dementia can be a common misdiagnosis before motor functions become impaired.   

Article: Mutation Helps Even Carriers of 'Alzheimer's Gene' Avoid Alzheimer's

Additional Info: A rare mutation protects against Alzheimer's disease, Stanford-led research finds

Brain Disorders Are Tied to Genetic Mutations

                                                  

     New research was found which may lead to better diagnostics and the care and treatment for different types of diseases that occur during the early development of the brain, such as epilepsy. In the study, around 300 children coming with different types of forms of MCD gave in some brain tissue samples. These samples were collected when these children underwent epilepsy surgery to treat this disease. With each tissue sample, there was also a blood and saliva sample along with samples from the parents. Along with the samples given by the patients and their parents, there were also a small number of outside people that had no brain conditions that also donated their brain tissue for comparison. Comprehensive screening happened in three steps. The first step examined genes in the mTOR pathway. These genes regulate metabolism, cell growth, and show a huge amount of signaling in brains with epilepsy. The second step identified new genes through unbiased gene discovery to associated genes that may be tied with MCD. The third step consisted of testing a new sample independently to confirm the genes tested and identified in the first and second steps. The study came back with 69 mutated genes tied with MCD for the first time. Twelve of these mutated genes were mutated repeatedly which means that they were found in two different brain samples. The study confirmed that the mTOR pathway is a very important pathway to our body and the dysregulation of it can cause human diseases. However, the study concluded that there is much more to research, as it has never fully gone in depth. There may be more identifiable genes in the studies to come. To test mutation functions, the researchers put one of two forms of the MCD genes into the brains of mice, mutated or non-mutated. When mutated genes were introduced into the mice body, there were abnormalities in the brain very similar to the findings that were seen in humans with MCD which means that the mutated genes are very likely to contribute to the disease and they are vital to cortical development.

     This study was very remarkable. There are lots of patients who deserve better care and it must be hard for patients with conditions like epilepsy or any neurological disorder to receive it. This study just proved that there needs to be more in depth studies of many disorders, but it also proved that there is an insight to the origin of these disorders. This is a start to the treatment of many conditions. This also brings hope to people who are diagnosed with these disorders. This research opened a new area of focus, and with more in depth studies, the findings will lead closer to better treatment and diagnostics, and hopefully a cure.

Sources:

https://www.nimh.nih.gov/news/science-news/2023/researchers-unlock-genetic-mutations-contributing-to-disorders-in-the-brain

https://medlineplus.gov/geneticbraindisorders.html

Inheritance of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is an inherited condition that affects the connective tissues mostly skin, joints, and blood vessels. The most common form of EDS is hypermobility Ehlers-Danlos syndrome They're all associated with a variety of genetic causes passed on and inherited from parent to child. Depending on the type of EDS it could have come from one or both parents. There are more than 20 genes found to be the cause of EDS. Some of the genes associated with Ehlers-Danlos syndrome, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several types of collagen. When the genes are disrupted the process of creating collagen is affected creating changes in the weakened bones connective tissue stretching which are the characteristic traits of EDS. Inheritance of EDS depends on the type of syndrome type you have. Some have autosomal dominant or autosomal recessive. In recessive two copies of the genes in the cells are altered and one parent is the carrier but does not show signs or symptoms of the disorder. There is a chance that one in four children can get the condition from both parents. In autosomal dominant one copy of the altered gene in each cell cause the disorder and is inherited from one affected parent. While there is also a chance that a kid can get the disorder without any family history of it this is called new de novo gene variants.

Sources

https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125

https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/#inheritance

https://www.ehlers-danlos.com/genetics-and-inheritance/

Gene Therapy Used for the First Time to correct Fatal Illness Before Birth

 

Gene therapy involves modifying defective genes in order to cure a disease or help your body fight the disease better. Researchers have found that this can be done by replacing mutated genes. Certain cells become diseased because some genes do not work or work incorrectly. Replacing the defective gene can aid to treat certain diseases. Gene therapy can also involve fixing the mutated genes by turning them off so that they no longer promote disease and turning on healthy genes to prevent or inhibit disease. If your immune system doesn't attack diseased cells because it does not recognize them as trespassers, gene therapy can be used to train it to be more evident to threats. 

Researchers are still studying how and when to use gene therapy. A recent study has found that a progressive treatment performed before birth may help children born with the rare genetic disorder, Pompe disease. Pompe disease is caused by mutations in a gene that make an enzyme that breaks glycogen down in cells. This causes glycogen to build up throughout the body. This condition is often treated right after birth with replacement enzymes. Although some babies are also born with an immune disorder that blocks the infused enzymes, for which the therapy is inhibited. This new treatment was injected into a mother's abdomen and then guided into the umbilical cord vein of the baby suffering from Pompe disease. After many biweekly infusions in utero, the baby was observed to be born healthy. 

Even though this form of gene therapy had only been performed on one mother, I believe there is a lot of potential for doing more research on this topic. In so, it is not only the enzyme infusion that is the innovation, it is treating this problem earlier and while still in utero.  This is because patients with such early-onset lysosomal storage diseases are ideal candidates for this type of prenatal therapy since organ damage starts in utero. If in-utero enzyme-replacement therapy continues to bring positive results, it will indeed save many lives.  

Unraveling The Biology of a Mysterious Condition: Stuttering

 

Stuttering has been a condition that many have feared to be judged for. Many claim its origins to be from traumas or psychological issues, however, researchers have explored this condition more and discovered that it comes down to genetics and brain differences.

Over 70 million people worldwide suffer from this condition. Its traces lead back ancient China and Rome, but no accepted causes have ever been determined until only a few years ago. Brain scans showed, “…genetic mutations related to stuttering are associated with structural abnormalities in the corpus callosum, a bundle of fibers that connects the two hemispheres of the brain and ensures they can communicate; and the thalamus, a relay station that sorts sensory information to other parts of the brain. Past research has also linked stuttering to the basal ganglia, brain structures involved in the coordination of movement” (Ungar, 2022).

Even with scientific evidence many people still incorrectly believe that people stutter because they are nervous or shy and could make it stop if they tried harder. At the present time, speech therapy is the only way of treatment for stuttering. These discoveries may lead to medications in the near future that can be taken to alter levels of chemicals in the brain thought to be responsible. However, for some stuttering is a part of who they are, and they wouldn’t want to change that.

Overall, this discovery in biology brings about it hope that will decrease the stigma against those with this condition and allow better opportunities for individuals to excel in areas most would consider to be impossible.

A similar article on this story can be accessed here. 

Omicron Variant Defies the Process of Natural Selection

     An article written by Carl Zimmer for the New York Times explores the extreme evolutionary change in the Omicron variant. Variants of the original virus have been surfacing for quite some time, but the Omicron variant is in a league of its own. Zimmer writes, "...earlier variants had differed from the original Wuhan version of the coronavirus by a dozen or two mutations, Omicron had 53." A good number of these mutations were expected to be harmful to the virus, as they were not found in other coronaviruses. In fact, 30 new mutations were discovered in Omicron's spike protein, 13 of which were mutations rarely, or never, found in other versions of the virus. 

    Natural selection selects for traits that increase an organisms fitness in their given environment. If a mutation is beneficial to the virus, it would be rational to believe it would be observed among other variations, such as the Delta variant. Scientists have sequenced millions of coronavirus genomes over the course of the pandemic, but the Omicron variant has mutated in ways to be unlike any of the others. These mutations in its spike protein change the way the virus infects other cells entirely. Instead of the typical way by merging with another cells membrane, the Omicron variants unique spike protein allows the cell to completely engulf it. It then breaks open, infecting the host cell from within. One explanation for the success of the Omicron variant is epistasis. On their own these 13 mutations may have been harmful to the virus, but all the mutations combined just happened to be beneficial. 

    Opinion: How successful these mutations make the Omicron variant is still unclear, but the rate at which the virus is developing these mutations as a whole is mind boggling. 

                                                                                                               - Written by Rachel Roman

Cryptic Coloration Seen in Stick Insects Found to be Linked to Supermutation

A million base pair adaptive deletion, called a supermutation, has been found to be present in stick insects in North America. There are known to be multiple genes that affect the look of an organism in addition to its environment. Factors such as color are affected by such genes and adaptations in non-domesticated organisms. Seven different species of stick insects were looked at for genetic mutations that cause cryptic coloration, known more commonly as camouflage. One particular species, Timema chumash, was found to be able to morph to show various colors, besides the usual greens and browns.

Scientists were able to use genome mapping to find a supermutation, which is a million base pair deletion. The supermutation caused the type of color variation found in the Timema chumash, called a continuum of color variation by Gompert who is an author on the paper, to be converted into the more discrete morphs seen in other species. So far, researchers believe that this may give insight into any gaps or shifts in evolution, which is known to be a continuous process.

Overall, this paper shows great insight into evolution and how what we know about it has changed and will continue to change. Mutations in one species of an organism may have different effects in another. This tells us that the world and its beings are forever changing, and although there are gaps we do not currently have data for, gene mapping may be the process that can answer such questions.

Article: https://www.sciencedaily.com/releases/2020/07/200723143731.htm

Related Article: https://www.usu.edu/today/story/sticking-out-usu-genetic-ecologist-uses-genome-mapping-to-reveal-supermutation

I Remember You

Alzheimer’s disease, a disease that is associated with mental decline, causes up to 80% of the dementia cases.  A woman in Columbia that suffers from Alzheimer’s disease for years has yet not developed dementia.  Scientist have come to believe that it is because of a mutation in her genetic code, she is immune to developing dementia.

She developed Alzheimer’s at a very young age due to a Presenilin 1 (PSEN1) gene being mutated.  It is a “E280A mutation, but this isn’t the mutation that caused her immunity to dementia.  The reason for her dementia immunity is because she has 2 mutations called “Christchurch” mutations in he APOE3 genes.  Having 2 of these mutations have helped block the necessary actions for the body to have unnecessary death of brain cells.  If this mutation could be replicated in the lab and applied to individuals suffering from Alzheimer’s, then it may be able to prevent those individuals from developing dementia.  Because the mutation stopped the Alzheimer’s from progressing into dementia, it may not be able to reverse the effects for people already affected by it.  

Original Article: Woman that Doesn't Develop Alzheimer's

Why Didn’t She Get Alzehmier’s? The Answer Could Hold a Key to Fighting the Disease

A rare genetic mutation has protected a woman from dementia who is very high at risk for the disease. It was predicted that by the age of 50 the woman would have developed Alzehimer’s from her genetic profile but her tests have shown that her brain was functioning very well. The woman had high amounts of amyloid but did not even have a pre-Alzheimer's condition. Her family’ pedigree had shown that they, like her, had a genetic mutation that would have caused thinking and memory loss problems in their 40s. Then from their 40s those problems would quickly get worse until their death which would be around the age of 60. The extremely rare mutation the woman has minimizes the binding of a specific sugar compound to a significant gene to help hold off the disease. This is a very important discovery that could help researchers with a cure for Alzehmier’s. 

Links:

Why Didn’t She Get Alzehmier’s? The Answer Could Hold a Key to Fighting the Disease

https://www.nytimes.com/2019/11/04/health/alzheimers-treatment-genetics.html 

A Woman’s High Risk of Developing Early-Onset Alzheimer’s Was Delayed, Thanks to This Genetic Mutation

https://www.beingpatient.com/colombian-woman-alzheimers-gene/

Space-breeding Research Center

China wanted to increase the yield and quality of crops. So, the Chinese government researchers launched 8 recoverable satellites and 5 high-altitude balloons, that exposed seeds of vegetables and flowers to cosmic radiation and triggered mutations, in the space. Those seeds were then brought back on earth to be sown. These satellites also contained bacteria to see how high-energy radiation affected them. With hundreds of space-breeding experiments being done, many seeds were successfully selected because they were more resistant to drought and main diseases.

Even after exposure to a high dosage of radiation, it was concluded that the seeds contained no trace of any radioactive substance after extensive testing. Researchers are also combining biological techniques such as genetic sequencing, molecular labeling and gene editing to help improve the efficiency of new crop species.

“The question is, should we stick entirely to the pace of nature, or give it a little boost?” Dr. Li Jingzhao, a scientist involved in the program, asked.

I think this program is an important one because it improves the economy, scientific research, and biodiversity. We are exposed to radiation every day, with human activities, we are exposed to radiation even at more (and there are consequences) but as long as my food is safe, I say you scientists go for the ride! 

Article publication: South China Morning Post on November 7, 2019.
Article URL: https://www.abacusnews.com/culture/china-wants-produce-mutant-crops-space/article/3036708

Related article: http://www.spacedaily.com/news/china-00zb.html

DNA Surrounding EGFR Aids Cancer

Teams at the University of California San Diego 

School of Medicine and Case Western Reserve University 

School of Medicine found that extra DNA allows cancer 

cell's to live. They also found that if two tumor types are 

caused by the same gene, the extra DNA could be different. 

These teams used the cancer causing gene EGFR,  which

is part in glioblastoma (brain and other cancers). Mass 

amounts of this gene make circular DNA. The extra DNA 

around the EGFR samples which found "20 to 50 enhancers 

and other regulatory elements (Science Daily)." After testing

the elements by turning them off, they found that almost all 

of them helped the tumor grow in size. After finding this

information, they looked into other cancer types, and 

found similar results.

I believe that research and experiments like this are extremely important. I think cancer is way more common than it should be, and information such as these will be able to aid in the fight against cancer.

https://www.sciencedaily.com/releases/2019/11/191121141354.htm

https://www.hindawi.com/journals/bmri/2017/8045859/

Genetic mutation prevents Alzheimer’s Disease

Genetic mutation prevents Alzheimer’s Disease

Alzheimer’s Disease is a degenerative disease of the brain associated with the build up of amyloid-beta

protein deposits. Although not genetically inherited, some individuals are predisposed to developing the

disease if they carry the E280A mutation of the Presenilin (PSEN1) gene. In a unique case, an individual

female in her 40s was identified as being a carrier for E280A so her condition was monitored as she aged.

The E280A mutation causes the onset of Alzheimer's Disease and dementia to begin at a younger age.

However, this individual, despite developing signs of dementia in her brain, remained unaffected by the

disease until her 70s. The cause for this was found to be yet another genetic mutation. The individual

carried the mutation, known as “christchurh” in the APOE3 gene, to be even more specific, she carried

two of these mutations, unlike most individuals who carry one (if they carry it at all). More research is

being conducted about the mutation and its possibilities in treating Alzheimer's Disease.

I think it is a very unique case that was meant to be discovered. Alzheimer’s is a fatal and heart

wrenching disease that still requires many more years of research to unwrap its entirety. 

https://www.usnews.com/news/health-news/articles/2019-11-04/a-gene-kept-one-woman-from-developing-alzheimers-could-it-help-others

Related article: https://www.alzforum.org/news/research-news/can-apoe-mutation-halt-alzheimers-disease

Did a Single Genetic Mutation Make Humans the Heart Attack Species?

"Did a Single Genetic Mutation Make Humans the Heart Attack Species?"


By: Cody Cottier






According to researchers from the University of California, they believe a mutation could have occurred 3.3 million years ago that turned off the CMAH gene in humans. This would be a possible reason as to why humans are more prone to cardiovascular issues because this gene protected mammals against that. "Namely, the loss of the gene made our forebears deficient in molecules called sialic acids." An experiment was done where researchers genetically modified mice to be similar to our human state and the atherosclerosis rate doubled compared to the regular. The mice that ate red meat also had an increased rate. This may not be the cause, but this is a factor to consider when researching humans and heart disease.

I think this could be a possible factor as to why humans are more prone to cardiovascular issues, but I also believe our diets are as well. Most people eat meat and we also live longer than many species. The fact that we live longer gives us the option to more issues. There may be a reason as to why we have evolved without this gene and if we had it now we may have other issues that we may have not considered.

http://blogs.discovermagazine.com/crux/2019/09/09/humans-gene-mutation-heart-attack-cardiovascular-disease/

Related Article:
https://www.universityofcalifornia.edu/news/why-are-humans-only-species-prone-heart-attacks

Genetic Mutation in “CRISPR” Babies May shorten Lifespan

With new research into the effects of editing the genes of embryos prior to birth using CRISPR, results show this technology may be life threatening. A Chinese scientist used CRISPR to remove the genes that would have given twin girls HIV- their father tested positive- later causing AIDS. This specific gene he chose to edit may decrease the lifespan of these girls by two years. If the mutation causing HIV is passed down by both the mother and the father, then editing the mutation will prevent HIV. However, if the mutation is simply passed down by only one of the parents, then the editing will not allow for the same strength protection. 

Scientists are currently trying to understand why there is less protection with only one mutation. When editing genes, if the patient is an adult the edited genes will not be passed to the child but if CRISPR is used on an embryo, the edits will be passed on. This is due to the fact that an edit on an embryo will change its genetic code in most of its cells. 

Further, the double mutation has been “associated with improvements in mental ability in mice and recovery from stroke in humans.” This has lead researchers to want to understand why this specific gene has such an effect on many diseases.

Most scientists argue their opinions on the use of gene editing with the pros being that they “prevent an otherwise unavoidable disease.” The opposing argument is often that the technology is too premature and not ready for everyday use. 

The Chinese scientists did not properly go about this procedure and therefore, the rest of the science community is extremely against him. He has now been fired yet many other countries are begging to buy his products. 

I think that CRISPR technology is fascinating and needs to be put to use when researchers are better able to understand the impact that gene editing will have. For instance, certain diseases like Cystic Fibrosis are live threatening from the day a child is born and therefore should be able to be fixed. While in this case of HIV mutations, this is not as life threatening as it once was and should not be of the utmost concern.  

https://www.scientificamerican.com/article/genetic-mutation-in-crispr-babies-may-shorten-lifespan/