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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. | LitMetric

AI Article Synopsis

  • - The study aimed to find new genes linked to ALS by conducting a genome-wide association study with over 20,000 ALS patients and nearly 60,000 controls, as well as a rare variant analysis comparing familial ALS cases to controls.
  • - Researchers identified KIF5A as a novel gene associated with ALS, noting that mutations in different regions of KIF5A are responsible for other neurodegenerative diseases, such as hereditary spastic paraplegia and Charcot-Marie-Tooth disease.
  • - Interestingly, ALS patients with certain loss-of-function mutations in KIF5A had longer survival compared to typical cases, suggesting a complex role of KIF5A mutations in ALS pathology and emphasizing the importance of cytoskeletal

Article Abstract

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing

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