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Maternally inherited diabetes and deafness (MIDD): A distinct subtype of diabetes associated with a mitochondrial tRNALeu(UUR) gene point mutation

1995; Wiley; Volume: 18; Issue: S14 Linguagem: Inglês

10.1002/mus.880181425

1097-4598

J. M. W. van den Ouweland, H.H.P.J. Lemkes, Klaus-Dieter Gerbitz, J. A. Maassen,

Metabolism and Genetic Disorders

We have recently described a mitochondrial DNA (mtDNA) point mutation at np 3243 in the tRNALeu(UUR) gene in a large Dutch pedigree with maternally inherited diabetes mellitus and deafness (MIDD) illustrating the importance of mitochondrial function in maintenance of a proper glucose homeostasis. In this review we will focus on the prevalence of the mtDNA mutation at np 3243 in diabetic populations, as well as postulate some working models for its pathogenicity. © 1995 John Wiley & Sons, Inc.