Pathogenic mutations of nuclear genes associated with mitochondrial disorders
Open Access
- 1 March 2009
- journal article
- review article
- Published by China Science Publishing & Media Ltd. in Acta Biochimica et Biophysica Sinica
- Vol. 41 (3) , 179-187
Abstract
Mitochondrial disorders are clinical phenotypes associated with mitochondrial dysfunction, which can be caused by mutations in mitochondrial DNA (mtDNA) or nuclear genes. In this review, we summarized the pathogenic mutations of nuclear genes associated with mitochondrial disorders. These nuclear genes encode, components of mitochondrial translational machinery and structural subunits and assembly factors of the oxidative phosphorylation, that complex. The molecular mechanisms, that nuclear modifier genes modulate the phenotypic expression of mtDNA mutations, are discussed in detail.Keywords
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