Mitochondrial diseases: genotype versus phenotype.
Recently, a variety of degenerative diseases have been attributed to mutations in mitochondrial DNA. Even though these mutations are inherited and present throughout the body, they frequently cause late-onset, tissue-specific disease. This may be explained by a combination of the tissue-specific accumulation of somatic mtDNA mutations with age and the variation between tissues in the expression of nuclear genes that encode mitochondrial functions.
Wallace
D C
DC
Department of Genetics and Molecular Medicine, Emory University Medical School, Atlanta, GA 30322.
D004272:DNA, Mitochondrial / Q000235:genetics; D005111:Extrachromosomal Inheritance; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D010085:Oxidative Phosphorylation; D010641:Phenotype
D004272:DNA, Mitochondrial