Vol41 No.3: 179-187
Pathogenic mutations of nuclear genes associated with mitochondrial disorders
Xiaoyu Zhu1, Xuerui Peng1, Min-Xin Guan2, and Qingfeng Yan1*
(1 College of Life Science, Zhejiang University, Hangzhou 310058, People’s Republic of China; 2 Division and Program in Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA)
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.
Received: 2008-10-7 Accepted: 2008-11-25
*Corresponding author . Tel/Fax: +86-571-88206646; E-mail: [email protected]
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