Wenling Hospital of Wenzhou Medical College, Wenling, Zhejiang, China.
J Clin Neurosci. 2012 Jan;19(1):60-4. doi: 10.1016/j.jocn.2011.05.011. Epub 2011 Dec 9.
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.
线粒体功能障碍和线粒体 DNA（mtDNA）变异已被证明在多种神经疾病中起作用。为了确定 mtDNA 变异与脊髓小脑共济失调（SCA）之间是否存在关联，我们分析了来自一个大型中国家族（14 名 SCA 患者和 13 名健康个体）的血液样本中的 mtDNA 主要调控区（D 环）以及 mtDNA 含量和常见缺失的发生率。14 名 SCA 患者均被基因分型为 SCA3。在 27 名受试者中鉴定出 13 种 mtDNA 单倍型。我们在 mtDNA D 环区域未检测到突变，并且在 mtDNA 拷贝数或常见缺失水平方面，患者与其健康亲属之间无显著差异。与一些先前的报告相反，我们的研究表明，mtDNA 变异在 SCA3 个体中似乎是罕见事件。
