Sci. Aging Knowl. Environ., 27 October 2004
A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA
Frederick H. Wilson, Ali Hariri, Anita Farhi, Hongyu Zhao, Kitt Falk Petersen, Hakan R. Toka, Carol Nelson-Williams, Khalid M. Raja, Michael Kashgarian, Gerald I. Shulman, Steven J. Scheinman, and Richard P. Liftonhttp://sageke.sciencemag.org/cgi/content/abstract/2004/43/or18
Abstract: Science 21 October 2004 (10.1126/science.1102521) (Science Express Reports)
Hypertension and dyslipidemia are risk factors for atherosclerosis and occur together more often than expected by chance. Although this clustering suggests shared causation, unifying factors remain unknown. We describe a large kindred with a syndrome including hypertension, hypercholesterolemia, and hypomagnesemia. Each phenotype is transmitted on the maternal lineage with a pattern indicative of mitochondrial inheritance. Analysis of the mitochondrial genome of the maternal lineage identified a homoplasmic mutation substituting cytidine for uridine immediately 5' to the mitochondrial tRNAIle anticodon. Uridine at this position is nearly invariate among tRNAs because of its role in stabilizing the anticodon loop. Given the known loss of mitochondrial function with aging, these findings may have implications for the common clustering of these metabolic disorders.
Science of Aging Knowledge Environment. ISSN 1539-6150