Scientists have identified a variant in the gene DPP6 that increases susceptibility to amyotrophic lateral sclerosis, reports a paper to be published online in Nature Genetics. Amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease) is an untreatable and fatal disorder caused by degeneration of motor neurons in the brain and spinal cord.
While mutations in genes have been found that cause rare cases of familial ALS, there has been much more limited success in identifying genetic influences on non-familial (sporadic) ALS, which accounts for more than 90% of cases.
Leonard van den Berg and colleagues carried out a genome-wide association study of more than 1,700 individuals with the disease and more than 1,900 healthy controls, sampled from three European populations, and including recently reported data from affected individuals in the United States. A single variant in DPP6 was associated with ALS in each population, increasing risk by approximately 30%. This is the first genetic risk factor identified for sporadic ALS in the context of a genome-wide study, and is the first to be found consistently in multiple populations. DPP6 encodes a dipeptidyl-peptidase-like protein, an enzyme found predominantly in the brain whose expression has been shown to be increased in rats in response to spinal cord injury.
Leonard van den Berg (University Medical Center, Utrecht, The Netherlands)
Abstract available online.
(C) Nature Genetics press release.
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