The Gruber Foundation proudly presents the 2012 Genetics Prize to Douglas Wallace for the discovery of mutations in the mitochondrial genome and their impact on human health.
Wallace transformed mitochondrial genetics by demonstrating maternal inheritance of mitochondrial DNA (mtDNA) in humans and using it to discover that mutations in mtDNA cause an inherited human disease, Leber Hereditary Optic Neuropathy. He went on to discover that mutations in the mitochondrial genome can cause a variety of clinical problems. By transferring mitochondrial DNA without nuclear DNA to cells and introducing mtDNA mutations into the mouse female germline, he advanced the study of mitochondrial DNA and demonstrated that the number of abnormal mitochondria underlies the variability in disease severity. Beyond inherited disorders, the discovery that mtDNA variation is maternally inherited helped trace the origins and migrations of indigenous women.
The key role of mtDNA in neuronal health continues to unfold, building on Wallace’s observations that mtDNA mutations accumulate in postmitotic cells. Wallace’s work continues to inspire studies on the key role of mitochondria in a variety of common age-related neurodegenerative disorders.