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.
Department of Genetics and Molecular Medicine, Emory University Medical School, Atlanta, GA 30322.
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Wallace
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