Abstract
The replication and maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase γ ( pol -γ), which is encoded by the POLG gene mapped onto 15q24-q26 and containing 23 exons. It has become clear that mutations of POLG are a major cause of human diseases. To date about 150 diseasesrelated mutations and 9 nonsynonymous polymorphisms in POLG have been found to be associated with autosomal dominant and recessive progressive external ophthalmoplegia (PEO), Alpers syndrome, sensory ataxia neuropathy, dysarthria and ophthalmoparesis (SANDO), Parkinson disease (PD) , and male infertility. Transgenic mice and biochemical studies of recombinant mutated pol y proteins are helping to unravel mechanisms of pathogenesis, and patterns are beginning to emerage relating genotype to phenotype. The association between POLG and human diseases will be discussed in this review. Key words: POLG gene; Human diseases
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