Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis

Neurobiology of Aging
Pei-Chien TsaiYi-Chung Lee

Abstract

Mutations in the cyclin F gene (CCNF) have been recently identified in a small number of patients with amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia, and their role in patients with ALS in Taiwan remains elusive. The aim of this study was to elucidate the frequency and spectrum of CCNF mutations in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of the CCNF gene were performed using Sanger sequencing in a cohort of 255 unrelated patients with ALS. Among these patients, the genetic diagnoses of 204 patients remained unclear after mutations in SOD1, C9ORF72, TARDBP, FUS, ATXN2, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, HNRNPA2B1, MATR3, CHCHD10, TUBA4A, and TKB1 had been investigated. Two novel heterozygous missense mutations in CCNF, p.S222P (c.664T>C) and p.S532R (c.1596C>T), were identified; 1 in each patient with apparently sporadic ALS. In vitro functional study demonstrated that both mutations result in a general and cyclin F-mediated ubiquitin-proteasome pathway dysfunction. The frequency of CCNF mutations in ALS patients in Taiwan is, therefore, approximately 0.8% (2/255). These findings expand the mutational spectrum of CCNF and also emphasize the pathogenic role of CCNF mutations i...Continue Reading

Citations

May 29, 2020·Annals of Clinical and Translational Neurology·Yu-Shuen TsaiYi-Chung Lee
Aug 29, 2020·Journal of Personalized Medicine·Laura Le GallStephanie Duguez
Mar 14, 2019·Science China. Life Sciences·Qianqian WeiHui-Fang Shang
Aug 7, 2021·Journal of Personalized Medicine·Oihane Pikatza-MenoioSonia Alonso-Martín

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