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

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

Open publisher page 61 citations

Abstract

We have recently described a mitochondrial DNA (mtDNA) point mutation at np 3243 in the tRNA(Leu)(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.

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What this paper is about

We have recently described a mitochondrial DNA (mtDNA) point mutation at np 3243 in the tRNA(Leu)(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.

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OpenAlex reports 61 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

We have recently described a mitochondrial DNA (mtDNA) point mutation at np 3243 in the tRNA(Leu)(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.

Key concepts: Mitochondrial DNA, Point mutation, Genetics, Mutation, Gene, Biology, Diabetes mellitus, Mitochondrion

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