Mitochondrial biogenesis defects and neuromuscular disorders

被引：17

作者：

Marin-Garcia, J ^{[1
]}

Goldenthal, MJ ^{[1
]}

机构：

[1] Mol Cardiol Inst, Highland Pk, NJ 08904 USA

来源：

PEDIATRIC NEUROLOGY | 2000年 / 22卷 / 02期

关键词：

D O I：

10.1016/S0887-8994(99)00117-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A variety of mitochondrial DNA (mtDNA) defects, ranging from point mutations and large-scale deletions to severe reduction in the overall quantity of mtDNA (mtDNA depletion), may be associated with neuromuscular disorders. The nuclear genome, which encodes most of the proteins involved in mitochondrial biogenesis (regulation of maintenance, replication, and transcription of mtDNA), appears to be implicated in many of the mtDNA defects. In this review, we describe some of the mtDNA defects discovered by our laboratory and others in patients with neurologic disorders and analyze their potential relationship with the pathways and mechanisms involved in mitochondrial biogenesis. (C) 2000 by Elsevier Science Inc AII rights reserved.

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页码：122 / 129

页数：8

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