Parker W D
Department of Neurology, University of Colorado School of Medicine, Denver 80262.
Ann N Y Acad Sci. 1991;640:59-64. doi: 10.1111/j.1749-6632.1991.tb00191.x.
Alzheimer's disease (AD) is a degenerative neurologic disorder that may be familial but is usually sporadic and not easily analyzable in terms of conventional Mendelian genetics. The mitochondrial electron transport chain contains 13 proteins that are encoded by mitochondrial genes rather than nuclear (chromosomal) genes. Disorders resulting from heteroplasmic mutations of mitochondrial genes may appear to be sporadic rather than familial. We evaluated electron transport chain activity in platelet mitochondria prepared from patients with AD and found a specific defect in cytochrome oxidase in five of six patients studied. The mitochondrial genome may play a role in the pathogenesis of AD.
阿尔茨海默病（AD）是一种退行性神经疾病，可能为家族性，但通常是散发性的，按照传统孟德尔遗传学不易分析。线粒体电子传递链包含13种由线粒体基因而非核（染色体）基因编码的蛋白质。线粒体基因异质性突变导致的疾病可能表现为散发性而非家族性。我们评估了AD患者血小板线粒体中的电子传递链活性，在研究的6名患者中有5名发现细胞色素氧化酶存在特异性缺陷。线粒体基因组可能在AD的发病机制中起作用。
