The identification of new gene mutations heralds insight into ALS

Mutations in a gene called SS18L1, or CREST, may be a risk factor for amyotropic lateral sclerosis (ALS), reports a paper published this week in Nature Neuroscience.This study adds to the list of potential genetic risk factors for ALS.

ALS, commonly called Lou Gehrig’s disease, is a progressive neurodegenerative disease characterized by the selective death and degeneration of upper and lower motor neurons, which control muscle contraction, resulting in paralysis and, eventually, death.While some of the genes which play a role in the onset of ALS have been described, the vast majority of cases are of unknown origin.

In an attempt to identify whether other potential genetic mutations may influence ALS onset, Aaron D. Gitler and colleagues examined the genetic information from 47 trios-an affected individual and his/her two unaffected biological parents-to look for mutations in the sequence of a gene that is found in the patient but not in either of his/her parents. They found a mutation in the CREST gene, which is expressed more abundantly in neurons, in one of these patients and in a separate family with a history of ALS. It remains to be seen precisely how mutations in CREST lead to ALS pathology, but this work represents a first step along that important path.