Xiao-Dan Wen1, Hong-Fu Li2, Hong-Xia Wang1, Wang Ni2, Yi Dong1, Zhi-Ying Wu1,2. 1. Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China. 2. Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, China.
Abstract
AIMS: Recently, mutations in COQ2 encoding para-hydroxybenzoate-polyprenyl transferase have been identified to increase the risk of multiple system atrophy (MSA) in multiplex families and sporadic cases. The prevalence of COQ2 mutations was showed to be higher in cerebellar subtype (MSA-C) than parkinsonism subtype (MSA-P). The aim of this study was to investigate the association between COQ2 mutations and MSA-C in Chinese patients. METHODS: A Chinese cohort of 116 patients with MSA-C and 192 healthy control individuals were recruited. Sanger sequencing of COQ2 was performed in all these subjects. RESULTS: Two missense mutations (p.L402F and p.R173H) and one synonymous mutation (p.A32A) were detected in 3 patients, respectively. They were not found in the 192 controls as well as the 1000 Genomes Database. The p.L402F and p.A32A were novel. CONCLUSION: Our results indicated that COQ2 tended to play a population-specific and subtype-depended role in conferring susceptibility to MSA.
AIMS: Recently, mutations in COQ2 encoding para-hydroxybenzoate-polyprenyl transferase have been identified to increase the risk of multiple system atrophy (MSA) in multiplex families and sporadic cases. The prevalence of COQ2 mutations was showed to be higher in cerebellar subtype (MSA-C) than parkinsonism subtype (MSA-P). The aim of this study was to investigate the association between COQ2 mutations and MSA-C in Chinese patients. METHODS: A Chinese cohort of 116 patients with MSA-C and 192 healthy control individuals were recruited. Sanger sequencing of COQ2 was performed in all these subjects. RESULTS: Two missense mutations (p.L402F and p.R173H) and one synonymous mutation (p.A32A) were detected in 3 patients, respectively. They were not found in the 192 controls as well as the 1000 Genomes Database. The p.L402F and p.A32A were novel. CONCLUSION: Our results indicated that COQ2 tended to play a population-specific and subtype-depended role in conferring susceptibility to MSA.
Authors: Jared S Katzeff; Katherine Phan; Sivaraman Purushothuman; Glenda M Halliday; Woojin Scott Kim Journal: Acta Neuropathol Commun Date: 2019-07-24 Impact factor: 7.801