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[心肌能量转导系统基因突变导致能量镶嵌引起的心律失常]

[Arrhythmias due to energy mosaic caused by gene mutations for energy transducing system in myocardium].

作者信息

Ozawa T

机构信息

Department of Biomedical Chemistry, Faculty of Medicine, University of Nagoya.

出版信息

Nihon Rinsho. 1993 Jun;51(6):1419-24.

PMID:8320823
Abstract

Recently, accumulation of oxygen damages and mutations in mitochondrial DNA during the life of an individual has been demonstrated to occur synergistically at a exponential rate. The mutations were caused by inherited germ line mutations and damage of mitochondrial DNA by active oxygen. Mitotic segregation of the mutated mitochondrial DNA causes energy mosaic among myofibire leading to arrhythmias. Two major mitochondrial DNA mutations, point mutations and deletion, detected by the total base sequencing among the patients were demonstrated and discussed.

摘要

最近,已证实在个体生命过程中,线粒体DNA的氧损伤积累和突变以指数速率协同发生。这些突变由遗传种系突变和活性氧对线粒体DNA的损伤引起。突变的线粒体DNA的有丝分裂分离导致肌纤维间的能量镶嵌,进而引发心律失常。文中展示并讨论了在患者中通过全碱基测序检测到的两种主要线粒体DNA突变,即点突变和缺失。

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