Why Huntington's Disease May Take So Long To Develop

    Huntington's disease is a rare genetic disorder which causes for brain regions to die because of progressive degeneration of nerve cells in the brain, and it affects movement, cognitive functions, and emotions. The disease has first symptoms which begin when someone is in their 30's and 40's, but there are ever rarer cases where is shows up in peoples 20's which is referred to as "Juvenile Huntington's disease". It has been shown that Huntington's is caused by a repeated bit of the HTT gene, and in some brain cells, that repeated bit can grow to hundreds of copies over time. Based off findings it is seen that the adding of the repeated in

vulnerable brain cells are what the main drive of Huntington's disease is.

   What is shown now is that if we are able to keep the growth of the repeats in order than we may be able to slow or even stop the disease from moving forward. Based off this finding, researchers are now looking for ways to lower the level of Huntington. 

Sources

Why Huntington’s disease may take so long to develop (sciencenews.org)

Huntington's disease - Symptoms and causes - Mayo Clinic

Huntington's Disease | Johns Hopkins Medicine

Genomic Effects of Inbreeding on Scandinavian Wolves

 

Researchers at Uppsala University studied the genetic origins of the Scandinavian grey wolf population, which began with only three wolves from Finland in the 1980s. After five generations of inbreeding, between 10 and 25% of the original genetic variation was lost, amounting to 160,000 genetic variants. The founding wolves weren't entirely unrelated, contributing to a reduction in initial genetic diversity. Professor Hans Ellegren highlighted the need for inbred populations to receive new genetic material from diverse sources. Despite recent genetic contributions from immigrating wolves, the high level of inbreeding threatens the retention of these new variants.

The Uppsala University study on Scandinavian grey wolves vividly highlights the perils of inbreeding. With just five generations resulting in a loss of up to 25% of original genetic variation, the fragility of such limited gene pools becomes starkly evident. This research is a potent reminder of the need for diversity to ensure the long-term health and survival of species. The second article, which is focused on human inbreeding shows that inbreeding between closely related individuals can result in significant health risks for offspring, including the increased likelihood of inheriting rare genetic diseases. Research shows that inbred children exhibited decreased cognitive abilities, reduced height, and lung function, and were more susceptible to diseases in general. 

Links: 

https://www.sciencedaily.com/releases/2022/02/220208143310.htm

https://www.discovermagazine.com/health/what-scientists-found-after-analyzing-cases-of-inbreeding-in-the-uk

Possible Gene Editing To Treat Alzheimer's Disease

Two new studies utilizing CRISPR gene editing have brought potential breakthroughs in Alzheimer's disease treatment. One study focuses on reducing the APOE-e4 gene, a common risk factor for Alzheimer's, demonstrating promising results in miniature brain models and humanized mice. Inheriting the APOE-e4 gene doesn’t guarantee a person will develop Alzheimer’s, but having one copy of APOE-e4 increases the risk two- to threefold. Having two of these genes increase the risk by as much as 12 times. The other study targets the amyloid precursor protein (APP) gene, which plays a crucial role in Alzheimer's. Researchers used CRISPR to decrease beta amyloid production, leading to reduced brain plaques, lower inflammation markers, and improved cognitive function in mouse models. These findings, presented at the Alzheimer's Association International Conference, indicate a significant step forward in developing new therapies for Alzheimer's disease.

New Genetic Variations Linked to Additional Attainment: Genetic Overlap Between Cognitive Ability and Longevity

Researchers have identified genetic variations which correlate with cognitive abilities.  Scientists profiled the cognitive ability of 100,000 individuals, performing tests measuring neuropsychological state of individuals.  While performing these tests, researchers uncovered certain genes that overlap with longevity.   These researches found that a longer lifespan was accompanied by a genetic predisposition towards higher cognitive abilities.  A genetic overlap between cognitive ability and autoimmune diseases were also identified. 

However, in this study no specific gene was identified for being the cause or effector gene to link cognitive abilities to longer lifespans.  With further testing and studies, a more concise explanation for this linkage can be explained.  I believe this study to be important to scientific research because it can give scientists a better understanding into the human brain and how longevity relates to it.