Pathogenic mutations of nuclear genes associated with mitochondrial disorders
X Zhu, X Peng, MX Guan, Q Yan - Acta Biochim Biophys Sin, 2009 - academic.oup.com
X Zhu, X Peng, MX Guan, Q Yan
Acta Biochim Biophys Sin, 2009•academic.oup.comMitochondrial 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 …
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 …
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.
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