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Mitochondrial Deoxyribonucleic Acid 3256C-T Mutation in a Japanese Family with Noninsulin-Dependent Diabetes Mellitus¹

Third Department of Internal Medicine (M.H., S.S., M.O., Y.H., A.H., M.O., M.C., S.K., S.H., Y.S., H.A., T.T.) and Department of Pediatrics (S.M.), Tohoku University School of Medicine, Sendai, Japan

Address all correspondence and requests for reprints to: Susumu Suzuki, M.D., Third Department of Internal Medicine, Tohoku University School of Medicine, 1–1 Seiryo-machi, Aoba-ku, Sendai 980, Japan.

Accumulating reports indicate a relationship between mitochondrial DNA mutation and impaired glucose-induced insulin secretion leading to a subtype of noninsulin-dependent diabetes mellitus. DNA from a 45-yr-old Japanese woman with noninsulin-dependent diabetes mellitus and muscle atrophy was isolated and studied for mitochondrial DNA mutations. We identified a mitochondrial DNA C-T heteroplasmic mutation at nucleotide position 3256. The mutation was located in the transfer ribonucleic acid^Leu in a region conserved in evolution. Eight other members of her family were examined for the mutation. Six of them had the same mutation together with noninsulin-dependent diabetes mellitus, and one teenage boy had the mutation and impaired glucose tolerance. The other family member who did not have this mutation had normal glucose tolerance. The enzyme activity of the mitochondrial oxidative phosphorylation pathway in the muscle of the proband was measured. The enzyme activity was decreased in the proband, especially in complex I. This mutation might be responsible for the abnormal glucose metabolism.

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