Tuesday, November 13, 2018

ALS and Genetics

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons, or nerve cells that control muscle movements. This disease depends on genetics and can be a trait that can be passed to the offspring. 

A mutation on C9ORF72 gene can cause a person to have (ALS).This gene provides instructions for making a protein that is located at the tip of the neuron in a region called presynaptic terminal. This area is important for sending the receiving signals between neurons. The mutation in this gene accounts for 25% to 40% of familial ALS cases and 7% of sporadic cases. In addition to the mutation on this gene, many other genes are also thought to be linked to ALS. Mutations in the SOD1 gene account for 12 to 20 percent of familial ALS and 1 to 2 percent of sporadic ALS cases. Mutations in the TARDBP gene are found in about 4 percent of familial ALS cases and about 1 percent of sporadic ALS cases. The FUS gene is mutated in about 5 percent of familial ALS and about 1 percent of sporadic ALS cases. And to a less percent also VCP, ATXN2, NEK1, ANG, TBK1, VAPB, and SQSTM1 genes, among others, that scientist keep studying and discovering.

The inheritance of this gene depends on the gene that was affected. But in most case the trait is inherited, in an autosomal dominant manner. But it can also be inherited in an autosomal recessive manner, it is less common, and it tends to get mistaken for sporadic ALS.

I found the article to be very interesting since there is no cure for this disease, and probably by finding that it is related to certain genes, it can be treated to prevent the disease or if the patient already has it, help relieve the pain and give a longer life expectancy. This finding is a big step on the research and study of ALS. 


https://ghr.nlm.nih.gov/gene/C9orf72#sourcesforpage       Genetics Home Reference

https://alsnewstoday.com/als-and-genetics/        All News Today

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