Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
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DOI：
10.1038/sj.ejhg.5201425
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发表时间：
2005-06-01
影响因子：
5.2
通讯作者：
Zeviani, M
中科院分区：
文献类型：
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作者：
Ghezzi, D;Marelli, C;Zeviani, M
有人提出，欧洲线粒体DNA(MtDNA)单倍群J和K及其在ND3基因上共享的10398G单核苷酸多态(SNP)对帕金森病(PD)具有保护作用。我们评估了不同mtDNA单倍群在620名意大利成人起病(50岁，50岁男性)患者中的分布。尽管存在共同的10398G SNP，但J和K单倍群属于广泛分歧的线粒体分支，这一考虑可能解释了我们队列中两个单倍群获得的不同结果。我们的研究表明，在意大利人中，单倍群K可能具有较低的帕金森病风险，证实了线粒体氧化磷酸化途径与特发性帕金森病易感性有关的观点。
It has been proposed that European mitochondrial DNA ( mtDNA) haplogroups J and K, and their shared 10398G single-nucleotide polymorphism (SNP) in the ND3 gene, are protective from Parkinson's disease (PD). We evaluated the distribution of the different mtDNA haplogroups in a large cohort of 620 Italian patients with adult-onset (>50, 50year old males. In spite of the common 10398G SNP, haplogroups J and K belong to widely diverging mitochondrial clades, a consideration that may explain the different results obtained for the two haplogroups in our cohorts. Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD.