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The Latest Studies about Lou Gehrigs Disease

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Lou Gehrig's disease—amyotrophic lateral sclerosis (ALS) is a disease of the neurons that activate muscles. These inactivated nerve cells originate in the brain and spinal cord. The disease is progressive and the muscles that are cut off from nourishment because of diseased neurons shrink and are no long able to function. Complete paralysis often results in the last stages of the disease. Genetic study

Two recent studies by the ALS Association have found a genetic origin to Lou Gehrig’s disease. At least that’s the most common cause.  A mutation—a change from the original form—has been found where a short DNA sequence repeats itself many times. This is not how the normal sequence of events in non-diseased DNA is supposed to act.

Another study: The National Institute on Aging found a gene on chromosome 9p21, in a “non-coding region” with the repeating motion. This has been attributed to over half of the ALS in Finland and “more than a third in other European populations.”

A Mayo Clinic study furthers the knowledge about genetics and ALS by believing the fault is in the RNA molecule. The RNA is the delivery system for the DNA code and when there’s an anomaly within this area, it cannot carry the message forward. Instead of carrying out the procedure of activating the muscles, the RNA binds to certain proteins and forms clumps.

This report advanced the knowledge about ALS and several independent groups have come to the same conclusions about gene 9p21. This has been proven by recent GWA (genome wide association) studies.

Drosphila fly model study in disease origin

“The investigators demonstrate that the drosophila TDP-43 and FUS/TLS proteins bind to each other, and using the mutant proteins linked to familial-ALS, they show that these proteins work together in a common genetic pathway.”

Although they understand, or believe wholeheartedly that these two genes work together to cause the disease, they’re still at a loss to understand how this comes about.

An upcoming study

A new drug designed to shut down or reduce the RNA—ribonucleic acid response—is on its way to being tested. This drug and this new possibility for cures for ALS came about because of the studies listed above. The drug, called the antisense approach was first given the go ahead by the ALS Association in 2003. Its intended purpose is to stall or reduce the amount of SOD1 protein. Scientists working along these lines have determined that about 20 percent of ALS inherited cases is started in this way. 

Other Scientific studies outside of ALS Association

The University of Pennsylvania Study working on the clumping of the RNA and the recent genetic discoveries have interesting observations to make.

A New York Times article that says some brain trauma resembles ALS is a study also leading forward with information concerning what’s being done about bringing about a cure or at least halting the progression of the disease. 

Most interesting is the suggestion that the many athletes that have succumbed to ALS, may have been injured while in the practice of their sport. While this theory is yet unproven, a few weeks ago a news broadcast did caution against the dangers of hard knocks and concussions to the head during the rigors of football.

ALS was not mentioned, but hindsight now brings that bit of TV commentary to the forefront. The brain is a delicate membrane and that is why it’s protected by such a thick skull. When DNA was being mapped out by the creator, there was not even an inkling of the rugged sport of football. And that brings up another possibility, the mutations, were these two brought about by hard knocks to the head? Further studies may show that is not too improbable as a possibility.

More about this author: Effie Moore Salem

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