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线粒体DNA缺失在卡恩斯-塞尔综合征中的广泛组织分布。

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.

作者信息

Shanske S, Moraes C T, Lombes A, Miranda A F, Bonilla E, Lewis P, Whelan M A, Ellsworth C A, DiMauro S

机构信息

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY 10032.

出版信息

Neurology. 1990 Jan;40(1):24-8. doi: 10.1212/wnl.40.1.24.

DOI:10.1212/wnl.40.1.24
PMID:2296377
Abstract

We performed Southern analysis of mitochondrial DNA (mtDNA) in 6 tissues from a patient with Kearns-Sayre syndrome and found a single deletion of 4.9 kb in all tissues. The percentage of deleted mtDNAs varied widely between tissues, from only 4% in smooth muscle to approximately 50% in skeletal muscle. Samples of DNA obtained from 3 different skeletal muscles and from separate areas of individual tissues showed little variation in percentage of deleted mtDNA. Biochemical analysis showed no clear correlation between mitochondrial enzyme activity and deleted mtDNAs.

摘要

我们对一名患有卡恩斯-塞尔综合征患者的6种组织进行了线粒体DNA（mtDNA）的Southern分析，发现在所有组织中均存在一个4.9 kb的单一缺失。缺失的mtDNA百分比在不同组织之间差异很大，从平滑肌中的仅4%到骨骼肌中的约50%。从3块不同的骨骼肌以及单个组织的不同区域获取的DNA样本显示，缺失的mtDNA百分比几乎没有差异。生化分析表明，线粒体酶活性与缺失的mtDNA之间没有明显的相关性。

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