Depletion of mtDNA: Syndromes and genes

被引：71

作者：

Alberio, Simona

Mineri, Rossana

Tiranti, Valeria

Zeviani, Massimo

机构：

[1] Unit of Molecular Neurogenetics - Pierfranco, Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C. Besta Neurological Institute Foundation

来源：

MITOCHONDRION | 2007年 / 7卷 / 1-2期

关键词：

mtDNA depletion; OXPHOS; tissue specificity;

D O I：

10.1016/j.mito.2006.11.010

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Maintenance of mitochondrial DNA (mtDNA) requires the concerted activity of several nuclear-encoded factors that participate in its replication, being part of the mitochondrial replisome or ensuring the balanced supply of dNTPs to mitochondria. In the past decade, a growing number of syndromes associated with dysfunction due to tissue-specific depletion of mtDNA (MDS) have been reported. This article reviews the current knowledge of the genes responsible for these disorders, the impact of different mutations in the epidemiology of MDS and their role in the pathogenic mechanisms underlying the different clinical presentations. (c) 2006 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：6 / 12

页数：7

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