Genetic causes of mitochondrial DNA depletion in humans

被引：61
|
作者：
Roetig, Agnes [1 ]
Poulton, Joanna [2 ]
机构：
[1] Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France
[2] Univ Oxford, John Radcliffe Hosp, Nuffield Dept Obstet & Gynaecol, Womens Ctr, Oxford OX3 9DU, England
来源：
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 2009年 / 1792卷 / 12期
基金：
英国医学研究理事会;
关键词：
Mitochondria; mtDNA depletion; Respiratory chain; RESPIRATORY-CHAIN DEFICIENCY; ONSET SPINOCEREBELLAR ATAXIA; MTDNA DEPLETION; RIBONUCLEOTIDE REDUCTASE; THYMIDINE KINASE; RECESSIVE ATAXIA; SUCLA2; MUTATIONS; ALPERS-SYNDROME; MPV17; ENCODES; POOL SIZES;
D O I：
10.1016/j.bbadis.2009.06.009
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Mitochondrial DNA (mtDNA) depletion is characterized by a profound reduction of mtDNA copy number. The maintenance of mtDNA copy number requires several nuclear-encoded factors involved in replication and in dNTP supply. In the past decade mutations in several of these factors have been reported in a growing number of syndromes. This article reviews the current knowledge of genes causing mitochondrial DNA depletion syndromes. (C) 2009 Published by Elsevier B.V.
引用
收藏
页码：1103 / 1108
页数：6
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