线粒体ND2基因中的点突变与阿尔茨海默病有关吗？
Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease.
作者信息
Petruzzella V, Chen X, Schon E A
机构信息
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032.
出版信息
Biochem Biophys Res Commun. 1992 Jul 15;186(1):491-7. doi: 10.1016/s0006-291x(05)80834-4.
A specific mitochondrial DNA mutation at position 5460 in the ND2 gene of the human mitochondrial genome was recently reported to exist in 10 of 19 patients with Alzheimer's disease, implying an association between this mtDNA mutation and the occurrence of the disease. We have analyzed tissues from 15 patients with Alzheimer's disease for the presence of the ND2 mutation, and have not been able to confirm these findings. We believe that this mutation is not specifically associated with Alzheimer's disease, but rather, is a neutral polymorphism present in the population.
最近有报道称，人类线粒体基因组ND2基因第5460位存在一种特定的线粒体DNA突变，在19例阿尔茨海默病患者中有10例存在该突变，这意味着这种线粒体DNA突变与该疾病的发生之间存在关联。我们分析了15例阿尔茨海默病患者的组织中是否存在ND2突变，但未能证实这些发现。我们认为这种突变并非与阿尔茨海默病有特异性关联，而是人群中存在的一种中性多态性。
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