Mitochondrial DNA depletion syndromes - Many genes, common mechanisms

被引：149

作者：

Suomalainen, Anu ^{[1
,2
]}

Isohanni, Pirjo ^{[1
,3
]}

机构：

[1] Univ Helsinki, Res Program Mol Neurol, Biomedicum Helsinki, FIN-00290 Helsinki, Finland

[2] Univ Helsinki, Cent Hosp, Dept Neurol, FIN-00290 Helsinki, Finland

[3] Univ Helsinki, Cent Hosp, Hosp Children & Adolescents, Div Child Neurol, FIN-00290 Helsinki, Finland

来源：

NEUROMUSCULAR DISORDERS | 2010年 / 20卷 / 07期

基金：

芬兰科学院;

关键词：

Mitochondrial DNA; Mitochondrial DNA depletion syndrome; Encephalopathy; Hepatoencephalopathy; Leigh syndrome; Alpers syndrome; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; ONSET SPINOCEREBELLAR ATAXIA; NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MNGIE; RECESSIVE TWINKLE MUTATIONS; POLYMERASE-GAMMA MUTATIONS; SUCCINYL-COA SYNTHETASES; MTDNA DEPLETION; THYMIDINE KINASE; DEOXYGUANOSINE KINASE; POLG1; MUTATIONS;

D O I：

10.1016/j.nmd.2010.03.017

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mitochondrial DNA depletion syndrome has become an important cause of inherited metabolic disorders, especially in children, but also in adults. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Nine genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation. We review here the current knowledge on the clinical and molecular genetic features of mitochondrial DNA depletion syndrome. (C) 2010 Elsevier B.V. All rights reserved.

引用

页码：429 / 437

页数：9

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