Monday, September 8, 2014

ALS, Part 2


There are no direct known causes yet of ALS. However, a number of genetic mutations have been associated with various types of ALS.

Defect on chromosome 21
A defect on chromosome 21, which codes for superoxide dismutase, is associated with approximately 20% of familial cases of ALS, or about 2% of ALS cases overall. This mutation is believed to be transmitted in an autosomal dominant manner, and has over a hundred different forms of mutation. 

Hexanucleotide
In 2011, a genetic abnormality known as a hexanucleotide repeat was found, which is associated with ALS combined with frontotemporal dementia and accounts for some 6% of cases of ALS. 

BCAA
Certain studies suggested a link between sporadic ALS, specifically in athletes, and a diet enriched with branched-chain amino acids. BCAAs, a common dietary supplement among athletes, cause cell hyper-excitability resembling that usually observed in ALS patients. The proposed underlying mechanism is that cell hyper-excitability results in increased calcium absorption by the cell and thus brings about cell death of neuronal cells, which have particularly low calcium buffering capabilities.

Lesion to the motor system
Another very common cause of ALS is a lesion to the motor system in areas such as the frontotemporal lobes. Lesions in these areas often show signs of early deficit, which can be used to predict the loss of motor function, and result in the spread of ALS.

Many other potential causes, including chemical exposure, electromagnetic field exposure, occupation, physical trauma, and electric shock, have been investigated but without consistent findings.

There is still no known cure for ALS. But there are treatments. There is Rilutek, which slows down the progression of the disease. Other nutrients that show promise are: creatine, CoQ10, Vitamin D, Vitamin E, alpha lipoid acid and lithium, which has been said to show the most successful demonstration as treatment to ALS.

But naturally, keeping oneself healthy and the immune system strong can help combat any disease.





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