Mitochondrial diabetes mellitus: a review
Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseasePublished 1 May 1995
Klaus-Dieter Gerbitz, Johannes M.W. van den Ouweland, J. A. Maassen, Michaela Jaksch
Citations220
SJR quartileQ1
SJR score1.43
SNIP0.98
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TL;DR
Phenotypically this type of mitochondrial diabetes is combined with deafness in more than 60% and is clinically distinguishable with respect to several characteristics from the two idiopathic forms of diabetes.
Abstract
We review the relationship between various types of mitochondrial DNA mutations and the prevalence as well as the pathobiochemical and clinical features of mitochondrial diabetes mellitus. An A to G transversion mutation in the tRNA(Leu(UUR)) gene is associated with diabetes in about 1.5% of the diabetic population in different countries and races. Phenotypically this type of mitochondrial diabetes is combined with deafness in more than 60% and is clinically distinguishable with respect to several characteristics from the two idiopathic forms of diabetes. The underlying pathomechanism is probably a delayed insulin secretion due to an impaired mitochondrial ATP production in consequence of the mtDNA defect.
Keywords
Biochemistry, Genetics and Molecular Biology
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