[Clinical characterization of diabetes mellitus in the families with mitochondrial encephalomyopathies].
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.
Suzuki
S
S
Third Department of Internal Medicine, Tohoku University School of Medicine.
D004272:DNA, Mitochondrial / Q000235:genetics; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D006801:Humans; D017243:MERRF Syndrome / Q000150:complications / Q000235:genetics; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000150:complications* / Q000235:genetics; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications / Q000235:genetics; D010375:Pedigree; D012313:RNA / Q000235:genetics
D004272:DNA, Mitochondrial; D012313:RNA