Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

被引：42

作者：

Durham, SE

Bonilla, E

Samuels, DC

DiMauro, S

Chinnery, PF

机构：

[1] Univ Newcastle Upon Tyne, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[2] Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY USA

[3] Virginia Polytech Inst & State Univ, Virginia Bioinformat Inst, Blacksburg, VA 24061 USA

来源：

NEUROLOGY | 2005年 / 65卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1212/01.wnl.0000171861.30277.88

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors measured the absolute amount of mitochondrial DNA ( mtDNA) within single muscle fibers from two patients with thymidine kinase 2 (TK2) deficiency and two healthy controls. TK2 deficient fibers containing more than 0.01 mtDNA/mu m(3) had residual cytochrome c oxidase ( COX) activity. This defines the minimum amount of wild-type mtDNA molecules required to maintain COX activity in skeletal muscle and provides an explanation for the mosaic histochemical pattern seen in patients with mtDNA depletion syndrome.

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收藏

页码：453 / 455

页数：3

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