Douglas C. Wallace has been a pioneer in the study of human mitochondrial genetics and the role of mitochondrial DNA variation in human evolution, disease, cancer, and aging. In the 1970s Dr. Wallace defined the basic principles of human mitochondrial DNA genetics, demonstrating that the human mitochondrial DNA encodes heritable traits, is maternally transmitted, has a high mutation rate, that intracellular mixtures on mutant and normal mitochondrial DNA are common and can segregate randomly during both mitotic and meiotic cell division, and that the clinical phenotype of a mutation depends on the severity of the mitochondrial defect and the reliance of each individual tissue on mitochondrial energy production. Once Dr. Wallace had defined the basic principles of mitochondrial DNA genetics, he applied these principles to the investigation of human origins and disease. Dr. Wallace also identified the first maternally inherited mitochondrial DNA diseases and has subsequently shown that deleterious mitochondrial DNA mutations are common and result in a plethora of complex multi-system diseases which encompasses all of the clinical phenotypes associated with aging, including neurological problems such as deafness, blindness, movement disorders, and dementias; cardiovascular disease; muscle degeneration and pain; renal dysfunction; endocrine disorders including diabetes, cancer, etc.
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