Wednesday, April 11, 2018

"KIF5A Gene Associated with the Development of ALS"

An international research team has identified a new gene, KIF5A, that they say is associated with the development of amyotrophic lateral sclerosis (ALS) which is also known as Lou Gehrig's Disease. ALS is a neuro-degenerative disease that over time, breaks down a person's ability to control or initiate muscle movement, in most cases leading to paralysis and death withing 2-5 years of diagnosis. It is caused by the breaking down of neurons in both the brain and spinal cord and about 10% of diagnosed patients are classified as "genetic" or "familial" in nature and caused by genetic defects while the other 90% are "sporadic" or without a direct family history.

According to the article this discovery will help advance the understanding of ALS and helps point a finger at the cytoskeleton as a focal point for potential new drug development. The cytoskeleton is the structure that makes up the axon which transfers electrical impulses and information through proteins. The cytoskeleton is where defects that are associated with or cause the effects of ALS can be found. KIF5A's job is to move signals up and down the cytoskelton within the axon, without KIF5A functioning properly, this important information is not able to be transferred. In addition to this KIF5A also plays an important role in mediating RNA transfer, and RNA processing also happens to be considered as a pathogenesis to ALS. This gene was discovered to be associated with ALS through 2 different, successful approaches which were financially supported by multiple organizations including the ALS Association.

Patients with this particular gene mutation are expect to live, on average, 10 years post diagnosis which is much longer than the average ALS patient. This information alone is huge for patients who wish to identify how much time they have. As someone who is dealing with my former coach/mentor/father figure's ALS diagnosis just over a year ago, and his subsequent physical struggles since, this is a small addition of hope that A) may lead to more useful research and information in the diagnosis and treatment of ALS and B) may allow him (if he chooses to) to be tested for this genetic defect to give some indication or forecast of how quickly this disease will affect him. One of the toughest parts of dealing with a loved one's ALS diagnosis is the uncertainty of how quickly the disease progresses. A guy that I went to grade school with passed away 4-5 years ago only 6 months after his diagnosis while in his early 20s, while we have seen in the case of Stephen Hawking, though rare, some people are able to survive a very long time with this disease. When you know your time left to see someone you care about is short, but you don't know how short, it can lead to tough decisions to be made for both the diagnosed and their loved ones. Having this first hand knowledge makes me think that this discovery is huge for ALS patients and their families and I am so hopeful for what may come next.


Additional link-

Journal post of the study-

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