无线粒体DNA突变的经典线粒体表型：核基因的可能作用

Classical mitochondrial phenotypes without mtDNA mutations: the possible role of nuclear genes.

作者信息

Pulkes Teeratorn, Liolitsa Danae, Nelson Isabelle P, Hanna Michael G

机构信息

Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Neurology. 2003 Oct 28;61(8):1144-7. doi: 10.1212/01.wnl.0000090465.27024.3d.

DOI:10.1212/01.wnl.0000090465.27024.3d

PMID:14581685

Abstract

The authors analyzed the total mitochondrial (mt) genome in 15 patients with classic mitochondrial phenotypes. Novel somatic mtDNA mutations in two patients with chronic progressive external ophthalmoplegia were identified. Total automated mtDNA genome analysis did not reveal other pathogenic mtDNA mutations. The authors conclude that classic mitochondrial phenotypes, including those with adult onset, may occur in the absence of mtDNA mutations. Nuclear gene mutations may be the cause.

摘要

作者分析了15例具有典型线粒体表型患者的线粒体（mt）全基因组。在2例慢性进行性眼外肌麻痹患者中鉴定出了新的体细胞mtDNA突变。全自动化mtDNA基因组分析未发现其他致病性mtDNA突变。作者得出结论，包括成年发病者在内的典型线粒体表型可能在不存在mtDNA突变的情况下出现。核基因突变可能是病因。