一名阿尔茨海默病患者的细胞色素c氧化酶线粒体DNA中存在两个点突变，且与正常线粒体DNA共存。
Two point mutations in mitochondrial DNA of cytochrome c oxidase coexist with normal mtDNA in a patient with Alzheimer's disease.
作者信息
Qiu X, Chen Y, Zhou M
机构信息
Res. Lab. Free Radical Medicine, The First Military Medical University, 510515, Guangzhou, PR China.
出版信息
Brain Res. 2001 Mar 2;893(1-2):261-3. doi: 10.1016/s0006-8993(00)03190-5.
The mitochondrial cytochrome c oxidase (CO) gene sequence was determined on a patient with Alzheimer's disease (AD). Compared to the standard Cambridge sequence to identify base changes,two missense mutations were found in the patient with AD. The mutations were a G to T transition at np 8206 and an A to T transition at np 8224. The np 8206 mutation changed a Met to an Ile and np 8224 mutation changed a Leu to a Phe. The normal bases and the mutations of mitochondrial DNA (mtDNA) coexist in the patient. Further studies will be required to demonstrate the role of the point mutations of mitochondrial DNA in the pathogenesis of Alzheimer's disease.
测定了一名阿尔茨海默病（AD）患者的线粒体细胞色素c氧化酶（CO）基因序列。与标准剑桥序列相比以识别碱基变化，在该AD患者中发现了两个错义突变。这些突变分别是第8206位核苷酸处的G到T转换以及第8224位核苷酸处的A到T转换。第8206位核苷酸的突变使一个甲硫氨酸变为异亮氨酸，第8224位核苷酸的突变使一个亮氨酸变为苯丙氨酸。该患者的线粒体DNA（mtDNA）中正常碱基与突变碱基共存。需要进一步研究来证明线粒体DNA点突变在阿尔茨海默病发病机制中的作用。
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