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  • Title: [Clinical characterization of diabetes mellitus in the families with mitochondrial encephalomyopathies].
    Author: Suzuki S.
    Journal: Nihon Rinsho; 1994 Oct; 52(10):2606-10. PubMed ID: 7527090.
    Abstract:
    We clinically characterized 18 diabetic patients in 7 families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and mitochondrial DNA mutations of tRNALEU(UUR) (3243), 5 diabetics in a family with myoclonic epilepsy and ragged red fiber (MERRF) and tRNALYS (8344) mutation and 11 diabetics in a family with chronic external ophthalmoplegia (CPEO) and multiple deletions. Insulin secretory capacities were significantly reduced in the mutant relatives, as compared with the non-mutant members. It is speculated that the mutation-induced OPHOS defects in the pancreatic beta- cells might result in insulin secretory defects.
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