The first risk variant for multiple sclerosis in a gene expressed specifically in neurons has been identified, according to a study published online in Nature Genetics.
Multiple sclerosis is a complex autoimmune disease in which the immune system attacks and destroys the myelin sheath surrounding nerve fibres, resulting in neurodegeneration. Only a very small number of genetic variants have been shown to increase risk, and each is found in genes with functions in the immune system.
Rogier Hintzen and colleagues carried out a genome-wide association study of affected Dutch, Swedish and Canadian individuals, and report a variant in the gene KIF1B to be associated with susceptibility to the disease. KIF1B is enriched in motor neurons, and is a member of a family of proteins involved in transport of cellular components along neuronal axons. This process has been implicated generally in neurodegenerative diseases, and the authors suggest that defective axonal transport may contribute to the pathogenesis of multiple sclerosis as well.
Rogier Hintzen (Erasmus Medical Center, Rotterdam, The Netherlands)
Abstract available online.
(C) Nature Genetics press release.
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