Open AccessAnalysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China
Author(s) -
Chunrong Wang,
Chen Zhao,
Fang Yang,
Bin Jiao,
Hongxia Peng,
Yuting Shi,
Yaqin Wang,
Fengzhen Huang,
Junling Wang,
Lu Shen,
Kun Xia,
Beisha Tang,
Tetsuo Ashizawa,
Hong Jiang
Publication year - 2015
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0130336
Subject(s) - c9orf72 , genetics , trinucleotide repeat expansion , genotype , gene , biology , machado–joseph disease , allele , disease , pathogenesis , medicine , spinocerebellar ataxia , immunology
Neurodegenerative disorders are a heterogeneous group of chronic progressive diseases and have pathological mechanisms in common. A certain causative gene identified for a particular disease may be found to play roles in more than one neurodegenerative disorder. We analyzed the GGGGCC repeat expansions of C9orf72 gene in patients with SCA3/MJD from mainland China to determine whether the C9orf72 gene plays a role in the pathogenesis of SCA3/MJD. In our study, there were no pathogenic repeats (>30 repeats) detected in either the patients or controls. SCA3/MJD patients with intermediate/intermediate or short/intermediate genotype (short: <7 repeats; intermediate: 7-30 repeats) of the GGGGCC repeats had an earlier onset compared with those with short/short genotype. The presence of the intermediate allele of the GGGGCC repeats in the patients decreased the age at onset by nearly 3 years. Our study firstly demonstrate that the development of SCA3/MJD may involve some physiological functions of the C9orf72 gene and provide new evidence to the hypothesis that a specific mutation identified in one of the neurodegenerative disorders may be a modulator in this class of diseases.