| Literature DB >> 7599217 |
K D Gerbitz1, J M van den Ouweland, J A Maassen, M Jaksch.
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.Entities:
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Year: 1995 PMID： 7599217 DOI： 10.1016/0925-4439(95)00036-4
Source DB: PubMed Journal: Biochim Biophys Acta ISSN： 0006-3002