Mechanisms of mitochondrial diseases

被引：138

作者：

Ylikallio, Emil ^{[1
]}

Suomalainen, Anu ^{[1
,2
]}

机构：

[1] Univ Helsinki, Res Programs Unit, Biomedicum Helsinki, FIN-00290 Helsinki, Finland

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

来源：

ANNALS OF MEDICINE | 2012年 / 44卷 / 01期

关键词：

Genetic diseases; inborn; mitochondria; mitochondrial diseases; CYTOCHROME-C-OXIDASE; DNA-POLYMERASE-GAMMA; MULTIPLE MTDNA DELETIONS; ATP SYNTHASE DEFICIENCY; COMPLEX-III DEFICIENCY; RNA-SYNTHETASE GENE; SUCCINATE-DEHYDROGENASE; RIBONUCLEOTIDE REDUCTASE; TISSUE-SPECIFICITY; ELONGATION-FACTORS;

D O I：

10.3109/07853890.2011.598547

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mitochondria are essential organelles with multiple functions, the most well known being the production of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). The mitochondrial diseases are defined by impairment of OXPHOS. They are a diverse group of diseases that can present in virtually any tissue in either adults or children. Here we review the main molecular mechanisms of mitochondrial diseases, as presently known. A number of disease-causing genetic defects, either in the nuclear genome or in the mitochondria's own genome, mitochondrial DNA (mtDNA), have been identified. The most classical genetic defect causing mitochondrial disease is a mutation in a gene encoding a structural OXPHOS subunit. However, mitochondrial diseases can also arise through impaired mtDNA maintenance, defects in mitochondrial translation factors, and various more indirect mechanisms. The putative consequences of mitochondrial dysfunction on a cellular level are discussed.

引用

页码：41 / 59

页数：19

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