MITOCHONDRIAL GENOME MUTATIONS AND KIDNEY-DISEASE

Mutations in the mitochondrial genome have been shown to be responsibl e for several neuromuscular diseases in humans. In this article, we di scuss the molecular genetics of mitochondria, their centrality in cell ular energy production, and reasons why their genome is extremely vuln erable to mutation, Mitochondrial DNA (mtDNA) mutations and their clas sic encephalomyopathic clinical phenotypes are briefly reviewed, and e vidence presented that mtDNA mutations also present primarily as kidne y diseases. Research trends in the field are discussed. Suggestions ar e made regarding future work, the clinical implications thereof, and p otential therapeutic utility accruing from these advances, (C) 1996 by the National Kidney Foundation, Inc.