mutation screening of the chchd10 gene in chinese patients with amyotrophic lateral sclerosis.chchd10基因的突变筛选中国的肌萎缩性脊髓侧索硬化症患者.pdfVIP

Mol Neurobiol DOI 10.1007/s12035-016-9888-0 Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis QingQing Zhou 1 YongPing Chen 1 QianQian Wei 1 Bei Cao 1 Ying Wu 1 Bi Zhao 1 RuWei Ou 1 Jing Yang 1 XuePing Chen 1 Shinji Hadano2,3,4 Hui-Fang Shang 1 Received: 16 February 2016 /Accepted: 28 March 2016 # Springer Science+Business Media New York 2016 Abstract Mutations in the coiled-coil-helix-coiled-coil-helix variants, including two missense mutations (c.275A G domain-containing protein 10 gene (CHCHD10), involved in (p.Y92C)andc.306G C(p.Q102H))andasynonymouschange mitochondrialfunction,haverecentlybeenreportedasacausative c.306G A (p.Q102Q), were found in exon 3 of CHCHD10 in geneofamyotrophiclateralsclerosis(ALS).Theaimofthisstudy three alive SALS individuals (with the longest disease duration of was to obtain the mutation prevalence of CHCHD10 and the 8.6 years), all of which were not detected in healthy controls. No phenotypes with mutations in Chinese ALS patients. A cohort mutation in CHCHD10 was identified in FALS patients. No mu- of 499 ALS patients including 487 sporadic ALS (SALS) and tation was found in the aforementioned common ALS causative 12 familial ALS (FALS), from the Department of Neurology, genes in the patients who carried CHCHD10mutations. The mu- West China Hospital of Sichuan University, were screened for tationfrequencyof CHCHD10 (0.4 %,2/487)ina ChineseSALS mutationsofallexonsofthe CHCHD10genebySangersequenc- population suggests CHCHD10 gene mutation appears to be an ing. Novel candidate mutations or variants were confirmed by uncommon cause of ALS in Chinese populations. CHCHD10 polymerase chain reaction-restriction fragment length polymor- mutationsareassociatedwithasl