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- Title
Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.
- Authors
Wang, Chunrong; Chen, Zhao; Yang, Fang; Jiao, Bin; Peng, Huirong; Shi, Yuting; Wang, Yaqin; Huang, Fengzhen; Wang, Junling; Shen, Lu; Xia, Kun; Tang, Beisha; Ashizawa, Tetsuo; Jiang, Hong
- Abstract
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.
- Subjects
CHINA; NEURODEGENERATION; CHRONIC diseases; ALLELES; STATISTICAL hypothesis testing
- Publication
PLoS ONE, 2015, Vol 10, Issue 6, p1
- ISSN
1932-6203
- Publication type
Article
- DOI
10.1371/journal.pone.0130336