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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

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      Abstract

      Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. The FUS/TLS protein binds to RNA, functions in diverse processes, and is normally located predominantly in the nucleus. In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS. Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.

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      Affiliations
      [1 ] Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA. tkwiatkowski@partners.org
      Journal
      Science
      Science (New York, N.Y.)
      American Association for the Advancement of Science (AAAS)
      1095-9203
      0036-8075
      Feb 27 2009
      : 323
      : 5918
      19251627
      323/5918/1205
      10.1126/science.1166066

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