Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
File(s)Science_2015_SI.pdf (687.96 KB) Science_2015_Tables.pdf (92.27 KB)
Supporting information
Supporting information
Author(s)
Type
Journal Article
Abstract
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of a moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS. We performed whole-exome sequencing of 2869 ALS patients and 6405 controls. Several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene. TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS. These observations reveal a key role of the autophagic pathway in ALS and suggest specific targets for therapeutic intervention.
Date Issued
2015-03-27
Journal / Book Title
Science
Copyright Statement
© the Authors 2015. Published by the American Association for the Advancement of Science.
Identifier
http://www.ncbi.nlm.nih.gov/pubmed/25700176
science.aaa3650