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Analysis of mitochondrial DNA variations in a Chinese family with spinocerebellar ataxia |
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| Authors: | Aiping Zeng Xinwei Liu Lijun Shen Weizhen LiZhongying Ding Yidong Bai Jianxin Lu |
| Affiliation: | a Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine, School of Life Science, Wenzhou Medical College, Chashan University Town, Wenzhou 325035, Zhejiang, China b Affiliated Wenling Hospital of Wenzhou Medical College, Wenling, Zhejiang, China c Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA d Department of Orthopaedic Surgery, Changhai Hospital, Second Military Medical University, Shanghai, China |
| Abstract: | Mitochondrial dysfunction and mitochondrial DNA (mtDNA) variations have been shown to have a role in several neurological diseases. To determine whether there is an association between mtDNA variations and spinocerebellar ataxia (SCA), we analyzed the mtDNA main control region (D-loop), as well as mtDNA content and the prevalence of the common deletion, in blood samples from members of a large Chinese family (14 individuals with SCA and 13 healthy individuals). All 14 individuals with SCA were genotyped as SCA3. Thirteen mtDNA haplotypes were identified among the 27 subjects. We detected no mutations in the mtDNA D-loop region and found no significant differences in mtDNA copy number or common deletion level between patients and their healthy relatives. Contrary to some previous reports, our study showed that mtDNA variations seem to be a rare event in individuals with SCA3. |
| Keywords: | Chinese family Haplotype Mitochondrial DNA Spinocerebellar ataxia |
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