Pathogenic mutations of nuclear genes associated with mitochondrial disorders.
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.
Zhu
Xiaoyu
X
College of Life Science, Zhejiang University, Hangzhou 310058, Peopleos Republic of China.
Peng
Xuerui
X
Guan
Min-Xin
MX
Yan
Qingfeng
Q
D002467:Cell Nucleus / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D005796:Genes; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation
D004272:DNA, Mitochondrial