Mancuso Michelangelo, Kiferle Lorenzo, Petrozzi Lucia, Nesti Claudia, Rocchi Anna, Ceravolo Roberto, Orsucci Daniele, Maluccio Maria Rosaria, Bonuccelli Ubaldo, Filosto Massimiliano, Siciliano Gabriele, Murri Luigi
Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy.
Neurosci Lett. 2008 Oct 17;444(1):83-6. doi: 10.1016/j.neulet.2008.08.013. Epub 2008 Aug 8.
Various lines of evidence demonstrate the involvement of mitochondrial dysfunction in the pathogenesis of Huntington's disease (HD). However, the precise role of mitochondria in the neurodegenerative cascade leading to HD is still unclear. Mitochondrial DNA (mtDNA) haplogroups-specific polymorphisms were previously related to several neurodegenerative diseases. The length of CAG repeat seems to be related to the clinical features of HD, such as age of onset and progression of motor impairment. The basis for the impaired cognitive functions and for the mood changes is less clear. Aim of this study was to determine whether mtDNA polymorphism(s) play the role of "modifier gene(s)" in this disease. In this work we have genotyped predefined European mtDNA haplogroups in 51 patients with HD and 181 matched controls. The frequency of the haplogroups and haplogroup clusters did not differ between the two groups, and no correlation with gender, age of onset and disease status was observed. No significant difference was observed between different haplogroups and haplogroup clusters in the cognitive or motor progression of the disease. Our study does not support any association between mtDNA haplogroups and HD.
多项证据表明线粒体功能障碍参与了亨廷顿舞蹈症（HD）的发病机制。然而，线粒体在导致HD的神经退行性级联反应中的确切作用仍不清楚。线粒体DNA（mtDNA）单倍群特异性多态性先前与几种神经退行性疾病有关。CAG重复序列的长度似乎与HD的临床特征有关，如发病年龄和运动障碍的进展。认知功能受损和情绪变化的原因尚不清楚。本研究的目的是确定mtDNA多态性是否在该疾病中起“修饰基因”的作用。在这项工作中，我们对51例HD患者和181例匹配对照进行了预定义欧洲mtDNA单倍群的基因分型。两组之间单倍群和单倍群簇的频率没有差异，且未观察到与性别、发病年龄和疾病状态的相关性。在疾病的认知或运动进展方面，不同单倍群和单倍群簇之间未观察到显著差异。我们的研究不支持mtDNA单倍群与HD之间存在任何关联。
