title: Pathogenic mutations of nuclear genes associated with mitochondrial disorders.
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.
authors.affiliation: College of Life Science, Zhejiang University, Hangzhou 310058, Peopleos Republic of China.
authors.forename: Xiaoyu
authors.initials: X
authors.lastname: Zhu
authors.forename: Xuerui
authors.initials: X
authors.lastname: Peng
authors.forename: Min-Xin
authors.initials: MX
authors.lastname: Guan
authors.forename: Qingfeng
authors.initials: Q
authors.lastname: Yan
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial