Deconstructing ALS

Ever since 1993, when copper-zinc superoxide dismutase 1 (SOD1) was implicated in amyotrophic lateral sclerosis (ALS), most research in the field has focused on understanding the enzyme's role in the pathogenesis of the disorder. But the focus on SOD1 has yet to unveil the mechanism of the disease. New findings published in Nature Genetics last week implicate mutations in a different gene in patients with a juvenile onset form of ALS (JALS), offering a new angle to elucidate the signaling pathway involved in the neurodegenerative disease.

Two groups, one from Northwestern University Medical School (Chicago, Ill.) and the other from Tokai University (Kanagawa, Japan), each identified mutations in the ALS2 gene in JALS patients. Northwestern scientists identified two deletion mutations of the gene that correlate with the inheritance pattern of JALS in two families from Saudi Arabia and Tunisia. The researchers from Tokai University identified a similar deletion mutation in a Tunisian family and a different mutation in a Kuwaiti family...