This week’s article emphasized the role of a particular pathway of kinases – the MAPK pathway– that often leads to cell death in various well-known diseases including Amyotrophic Lateral Sclerosis (ALS). Throughout all of the confusing biologic pathways where proteins trigger other proteins and substances that ultimately lead to cell, the things that stuck out to me were how these pathways could be traced back to aetiologies of the disease. In ALS, a gene mentioned in the paper that leads to this cascading pathway is SOD1. This gene is mutated and leads to cell death in motor neurons that causes the characteristic symptoms of ALS. In my research, I found an article from September 21, 2011 published by the ALS Association about a recent new discovery and another possible cause of ALS. Here is the article: http://www.alsa.org/news/archive/9p21-abnormality.html . This new finding was confirmed in two different studies and found that a mutation of a gene called C9ORF72 on chromosome 9p21 in DNA contains a short nucleotide sequence that repeats many more times in ALS patients than in those without ALS. They found that it wasn’t a small difference either, the portion of this gene repeats 700-1,600 times in ALS patients compared to only 2-23 times in healthy individuals! The prevalence of this mutation in ALS patients, as well as those with frontotemporal dementia (FTD), has led researchers to believe that it is the most common cause of ALS, with 50% of familial cases of ALS in Finland displaying this mutation. It is believed that the repeated sections in the gene cause defects when the DNA is transcribed into RNA and protein clumps in brain cells result. The other mechanisms that follow to cause ALS are not completely known yet, and a mechanism like the cell death cascade described in this week’s paper are not out of the question. Future research will reveal more about the inner workings of this newly discovered gene mutation, but researchers are already saying that future treatments are likely to center around the C9ORF72 gene. It is exciting to see such renewed hope for the future of ALS in a world of scientific discoveries that sometimes seem to bring us no closer to a cure.
New gene mutation is most common cause of ALS
