Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Duke University · Precision for Medicine (United States) · +26 more institutions
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…
Citation impact
- FWCI
- 88.22
- Percentile
- 100%
- References
- 63
Authors
71- ETElizabeth T. CirulliCorresponding
Duke University, Precision for Medicine (United States)
- BNBrittany N. Lasseigne
HudsonAlpha Institute for Biotechnology
- SPSlavé Petrovski
Columbia University
- PCPeter C. Sapp
University of Massachusetts Chan Medical School
- PAPatrick A. Dion
Montreal Neurological Institute and Hospital, McGill University
Topics & keywords
- Optineurin
- Amyotrophic lateral sclerosis
- Exome sequencing
- Gene
- Sequestosome 1
- TANK-binding kinase 1
- Exome
- Biology
- Good health and well-being