Journal
ACTA BIOCHIMICA ET BIOPHYSICA SINICA
Volume 41, Issue 3, Pages 179-187Publisher
OXFORD UNIV PRESS
DOI: 10.1093/abbs/gmn021
Keywords
mitochondria; mitochondrial disorder; nuclear modifier gene; pathogenic mutation
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Funding
- Program for New Century Excellent Talents in University [NCET06- 0526]
- Zhejiang Province 151 Excellent Talents Program [06-2-008]
- Program of Science and Technology in Zhejiang Province [2008C23028]
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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.
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