Development of an Adeno-Associated Virus (AAV) Capable of Crossing the Blood-Brain Barrier

For many diseases and disorders, gene therapy using adeno-associated viruses (AAVs) has been relatively successful in transporting specific genes across the body. However, with the blood-brain barrier being highly selective of what enters the brain, it will often reject AAVs from entering. When AAVs are denied entry to the brain patients do not receive the proper gene therapy needed to treat their disease. This is why a team of researchers from MIT and Harvard University set out to engineer a new AAV that could cross the blood-brain barrier with ease. 

To do this the team of researchers developed a variety of new AAVs to specifically find one that would bind to the transferrin protein receptor (TfR1), which is found in high quantities on the blood-brain barrier and is responsible for bringing iron into the brain.

While testing their newly developed TfR1-bound AAV on mice, the researchers found AAVs crossing the blood-brain barrier at levels 6-12 times higher than AAVs that are not TfR1-bound. Another significant observation was that the AAV's increased entry methods were only found for the central nervous system. Finally, the researchers found that when trying to deliver GBA1 into the brains of mice the TfR1-bound AAVs delivered 30 times more copies of GBA1.

The development of TfR1-bound AAVs is extremely significant for the increased effectiveness of AAV gene therapy. Personally, I think this breakthrough should be closely monitored to ensure that using TfR1-bound AAVs does not cause harm in the long run by potentially creating competition for iron attempting to cross the blood-brain barrier. This is important to monitor since a deficiency of iron can lead to many motor and cognitive impairments.

https://www.nimh.nih.gov/news/science-news/2024/new-gene-delivery-method-paves-the-way-for-advanced-brain-therapies

https://registries.ncats.nih.gov/glossary/adeno-associated-virus-gene-therapy/

Successful Vegetarian Lifestyle Suspected to Be Linked to Genes

    In the article, 'This study finds vegetarianism may be in the genes". Dr. Nabeel Yaseen, of Northwestern University Feinberg School of Medicine, and collaborators conducted a study by comparing data from the UK Biobank that included 30,000 individuals; where about 5,324 of the individuals were vegetarians who had not eaten any meat or products derived from animal flesh for a year plus. With this data, they found approximately thirty-four genes that may assist in an individual's ability to follow a strict [vegetarian] diet and three genes closely linked to this trait.

    This information is what led to Yaseen's hypothesis that vegetarians may have different variants of these genes when compared to an individual who follows an average non-vegetarian diet, this gene is what could allow vegetarians to sustain this diet. Yaseen and colleagues then ran a genome-wide association study to further their research. Since there are SNP's (single nucleotide polymorphs) associated with the trait, they observed the neighboring genes, which led to finding the three genes strongly associated with vegetarianism. Two of the three genes (NPC1 and RMC1) both play a role in lipid metabolism. This leaves readers to ponder Yaseen's final hypothesis regarding the association of these two genes with vegetarianism: meat may contain lipid nutrients that some individuals need and others can thrive without it [vegetarians being the ones who don't need it, thus allowing them to keep away from animal-based proteins for extended periods of time.]

I found this article interesting because I've been a vegetarian my whole life, I was raised as such. Throughout my life, people have always shown interest in my diet, so much so that they try to follow the diet. This effort typically lasts about a week, and then they return to their previous diets. This is why when the article discussed the possibility of genetics affecting the ability of an individual to adhere to a strict vegetarian diet over others, I was curious. However, the way the research was conducted and the data that came from it, may be flawed, i.e. the data was only pulled from Caucasian participants because they wanted the findings to be linked to the vegetarian diet not "ethnicity", etc. Furthermore, I find the premise strange-- simply because I find diets are typically more environmentally influenced, such as by one's culture, budget, immediate environmental conditions, preferences, health desires, ethical and religious beliefs, etc. As to whether I agree or disagree with this article, I believe more research needs to be done with a larger study group to refine these findings and then I will be more apt to decide.

Vitamin-D Deficiency affecting hair growth

 Vitamin-D Deficiency affecting hair growth

With aging, women's hair growth can slow down and lead to an increase in thinning. Vitamin D has been proven to boost hair growth and decrease hair loss. This is in part to the role that vitamin D plays in controlling the hair growth cycle. Vitamin D has also shown to help in decreasing swelling that can also affect hair loss. Women who have vitamin D deficiencies have a higher likelihood of experiencing significant hair loss and delayed hair growth. Research shows that vitamin D supplements could boost hair growth and limit hair loss due to aging. 

The reason I have chosen this article was because it focuses on how vitamin D deficiency has affected many females' hair growth. The age that this experiment focused on was from ages 18 to 45 years old. I found it interesting that the researchers looked at two different variables, not just vitamin D. I believe that the serum ferritin and the vitamin D worked hand in hand, which made the outcome to be more precise. The researchers also found that screening women for telogen effluvium (TE) and female pattern hair loss (FPHL) and giving them supplements during times of deficiency can prove beneficial. 

The researchers in this experiment found that there are many factors in hair loss, and they select to focus on vitamin D and serum benefits by using different scientific methods of research. The use of serums and vitamin D supplementation has effectively helped females with different backgrounds that had abnormal hair cycles. In order to test this experiment, the researchers controlled the environment by conducting the research during the summer.

https://pubmed.ncbi.nlm.nih.gov/23428658/

https://www.ishrs-htforum.org/content/32/4/113.full

Omega 3 Supplements Found to Help with Cholesterol

In the article, researchers conducted a study using data from 441,000 participants to predict the genetic likelihood of high cholesterol. High cholesterol can be detrimental to ones health since it increases risk of stroke and heart attack. People who have it, can combat their cholesterol with exercise and a healthy diet. However, sometimes high cholesterol is still unavoidable in the cases where it is genetically inherited. However, the study found that those who take fish oil supplements may be able to counteract the genetic predisposition for high cholesterol. This can be a pretty easy fix for those with high cholesterol since all they have to do is remember to take a pill each day.

 I found this article particularly interesting since I am someone who is affected by high cholesterol due to my genetics. I combat it by eating a healthy diet and checking my levels every so often to make sure it does not get too high. I wonder if fish oil supplements are more beneficial that trying to eat a lot of fiber.

Additionally, when I looked more into this, I found an article claiming that fish oil can actually be detrimental to heart health. Apparently it can increase the risk of atrial fibrillation as well as increase stroke chances by 5%. This contradicts the first article and I wonder how it is able to help cholesterol but also be increasing chances of stroke and atrial fibrillation.

Antisense oligonucleotide therapeutic approach for Timothy syndrome

 A uncommon genetic disorder called Timothy syndrome is brought on by mutations in the CACNA1C gene. Chen et al. (2024) look into a possible Timothy syndrome treatment strategy. Developing and implementing antisense oligonucleotide (ASO) therapy is the main objective of the study in order to treat the underlying genetic abnormalities linked to the illness. The researchers demonstrated significant improvements by using ASOs to precisely detect and correct the faulty gene expression in both cellular and animal models of Timothy syndrome.The findings suggest that this targeted therapeutic approach may be able to effectively reduce the symptoms of the illness, providing a promising new avenue for treatment (Chen et al.2024).

Chen, X., Fikri Birey, Li, M.-Y., Revah, O., Levy, R., Mayuri Vijay Thete, Reis, N., Konstantin Kaganovsky, Onesto, M., Sakai, N., Zuzana Hudacova, Hao, J., Meng, X., Nishino, S., Huguenard, J., & Pașca, S. P. (2024). Antisense oligonucleotide therapeutic approach for Timothy syndrome. Nature, 628(8009), 818–825. https://doi.org/10.1038/s41586-024-07310-6

Some Genes Might Send Girls Into Puberty Earlier

    In the article “Some Genes Might Send Girls Into Puberty Earlier” it shows that a recent study published in Nature Genetics revealed that a girl's genetics can indirectly influence the age of her first period by accelerating weight gain in childhood. Researchers analyzed the genes of approximately 800,000 women and identified over 1,000 genetic variants linked to the timing of puberty, with about 600 observed for the first time. Researchers had found about 45% of gene variants influenced puberty which resulted in early weight gain. The early weight gain as a result of ZNF483 causes women to experience puberty 1.3 years later on average, affecting about 1 in 3,800 women.It can primarily lead to the increased risk of diseases such as type 2 diabetes, heart disease and specific types of certain cancers.Researchers have developed a score in order to predict the likelihood of early and delayed puberty which was beneficial since it had allowing the early interventions in order to manage health risks early with the abnormal puberty time that may be affected. This study was lead  researchers at the University of Cambridge's Medical Research Council Epidemiology Unit, which had primarily made the rare analysis on rare genetic variants that are related to puberty. The researchers have identified six genes that significantly affected the puberty timing and this can also similarly impact boys' areas. Early puberty, typically between ages 10 and 15 but occurring earlier in recent decades. Lastly, puberty is linked to better adult health and longevity if it can be deducted early and health managed properly.

Thompson, D. (2024). Some Genes Might Send Girls Into Puberty Earlier. Retrieved from https://www.usnews.com/news/health-news/articles/2024-07-02/some-genes-might-send-girls-into-puberty-earlier 

Genetics and Athletic Performance

 The article discusses the role that genetics has in one's athletic abilities. With the olympics occurring, most viewers are probably wondering how these professional athletes became so gifted at their sports. A lot of the time it is because of long days of practice but sometimes it can be due to ones genetics. The article mentions one athlete who won 7 medals in the olympics had a similar training regime and one of the only differences was found in his DNA. His family had a mutation that increased the oxygen carrying abilities of their red blood cells by 20-25%, which causes a performance boost. Both genetics and environment play a role in athleticism but sometimes people are just lucky with what genes they're dealt.

This article makes me reflect on how people usually think mutations are a bad thing but this just goes to show they have their advantages. Mutations in our genes are important for evolving and should not be considered a negative trait.

FDA approving gene therapy to treat bladder cancer

 In the article, it talks more about gene therapy. How patients with high-risk bladder cancer can have an option for a new treatment. The FDA has now approved a gene therapy called "Adstiladrin". Which is for people whose cancer has not been approved by previous treatments. This is given directly into the bladder through a catheter every few months.

Bladder cancers would usually come back and spread. The usual Bacillus calmette-guerin treatment is to remove the tumor but the options may not work. 

There has been a study that patients who have used Adstiladrin have seen the cancer go away within the next few months. Yet, the study still continues as the FDA has said people with weak immune systems should not use Adstiladrin.