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

Promise in Tackling Muscular Dystrophy

Muscular Dystrophy, is “when damaged muscle tissue is replaced with fibrous, fatty or bony tissue and loses function”¹ has impacted around 250,000 people in the United States, and Duchenne Muscular Dystrophy (DMD) only affects boys. Recent clinical studies have been conducted on dogs to treat DMD during the early stages of development, and human trials are scheduled to begin in the next few years.

                                                                                  

Boys with DMD have a mutation in their genes that interrupt dystrophin protein production, and thus cause a phenotypic complication. The muscle cells degenerate, resulting in difficulty in mobility, such as walking and even breathing. Gene therapy has been unsuccessful in the past due to the large size of the gene, however past research has allowed the development of a microgene, in which a gene therapy vector can carry a micro-dystrophin to all muscles by way of a virus to offer protection of this disease.

This brings hope to boys who are showing early signs of Duchenne Muscular Dystrophy. With this microgene, there is promise for their muscle cells to be protected from this disease, as well as prevent further degeneration of mobility. This will be the beginning of these boys taking their life back, and truly living to the fullest.

Sources:

1. https://www.sciencedaily.com/releases/2015/10/151022141722.htm

2. http://munews.missouri.edu/news-releases/2015/1022-gene-therapy-treats-all-muscles-in-the-body-in-muscular-dystrophy-dogs-human-clinical-trials-are-next-step/

Bad Eyes? Gene Found to Affects Retinal Degeneration

Have you ever wondered why eyesight, mainly retina, worsens as you grow? Scientists, from Georgetown University of Medicine, have found that the hormone Klotho can lead to macular degeneration. Scientists have found that the hormone Klotho could increase synthesis of light absorbing pigments, increase of gene expression that protect against oxidative stress, inhibition of vascular endothelial growth, and is found to regulate phagocytosis in the photoreceptors. 

This correlation enables scientist to be able to manipulate this hormone to reduce macular degeneration.
Also, I think this can come handy to even just understand the relationships between hormones and their effects on cells.


http://www.medicalnewstoday.com/releases/267179.php

http://www.uniprot.org/uniprot/Q9UEF7