I decided to look up Lou Gehrig's disease today since all I knew about it was that it was a neurodegenerative disease and it is named after an American baseball player that was diagnosed with it in 1939. Consequently, it is know as motor neurone disease in Britain. Anyways, after reading a few articles on the disease, which is officially know as amyotrophic lateral sclerosis, I found that that very little is known about the actual cause of the disease, except that it is hereditary in about 10% of the total cases and that 5 in every 100,000 people are affected by ALS. The genetic cause can come from an inherited defect that is located on chromosome 21, which is seen in about 20% of known family related cases. It is also thought that the mutation is Autosomal dominant. More on the genetics can be found at http://web.archive.org/web/20041115214832/http://www.alsphiladelphia.org/pennstatehershey/newsletters/newsletter_spring04.htm.
There are also a few cases in which development of ALS may be linked to chemicals, with a study from 2000 showing that employees at a chemical company which were exposed to 2,4 - D had an increased mortality rate from ALS. This is the study (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1740039/pdf/v058p00024.pdf)
It is also interesting to note that Italian soccer players have a 5x higher incidence rate, which has led some to suspect the pesticides used on the field grass. Also, the ALS association has said that US military veterans are at an increased risk of developing ALS as well.
The disease causes the the neurons in the body to waste away and die, which causes progressing muscle weakness and loss of motor control. This continues until the patient is unable to breathe on their own. Along with the loss of muscle use and control comes everything that you would expect, ranging from paralysis to an inability to speak.
There are no permanent forms of treatment at the moment though some progress has been made in slowing the disease, if only for a few months. Most treatment is currently focused on relieving the painful and debilitating symptoms of the disease that are associated with the destruction of the neurons.
The the prognosis is grim at the moment, it is promising that there have been successful attempts at slowing the disease. More on that here: http://www.architalbiol.org/index.php/aib/article/view/1267
Can you guys find anymore promising treatments or theories on this disease?
I think that it is really interesting that mutations in superoxide dismutase 1 (SOD1) is implicated in some forms of genetic ALS. Since the SOD family of enzymes is responsible for eliminating free radicals from the body, it really makes me wonder if free radical buildup is responsible for more cases of ALS than we suspect. Link:
ReplyDeleteAnother point of implication in ALS is glutamate. Although glutamate is a normal signaling molecule, in ALS it is not cleared out of the CSF well due to a transporter mutation. Link here: http://www.alsa.org/research/about-als-research/glutamate.html
There is a drug available for treatment (Riluzole), but as Jon mentioned, this only slows the progression of the disease, but doesn't cure it.
ALS seems just as, if not more, confounding to treat as many of the other diseases we have studied this semester. Since it is so seemingly random and unpredictable as far as incidence in the population goes, it makes it really difficult to get to the bottom of what is really going on in the development of the disease. I wondered if some of the inflammatory pathways we have been talking about have something to do with it, and I found another link from the ALS Association which discusses the role of inflammation as known so far. I highly recommend checking out this link: http://www.alsa.org/research/about-als-research/inflammation.html