Data on a single-point mutation (3243A>G) in Finland indicate that approximately 1 in 6,000 individuals are affected, whereas estimates from the British population intimate that about 1 in 3,500 people either have mtDNA disease or are at risk of developing itNature Reviews Genetics 6, 389-402 (2005)
MITOCHONDRIAL DNA MUTATIONS IN HUMAN DISEASE
Robert W. Taylor & Doug M. Turnbull
The human mitochondrial genome is extremely small compared with the nuclear genome, and mitochondrial genetics presents unique clinical and experimental challenges. Despite the diminutive size of the mitochondrial genome, mitochondrial DNA (mtDNA) mutations are an important cause of inherited disease. Recent years have witnessed considerable progress in understanding basic mitochondrial genetics and the relationship between inherited mutations and disease phenotypes, and in identifying acquired mtDNA mutations in both ageing and cancer. However, many challenges remain, including the prevention and treatment of these diseases. This review explores the advances that have been made and the areas in which future progress is likely.