Gerbitz K D, van den Ouweland J M, Maassen J A, Jaksch M
Institutes of Clinical Chemistry and Diabetes Research, Academic Hospital Schwabing, Munich, Germany.
Biochim Biophys Acta. 1995 May 24;1271(1):253-60. doi: 10.1016/0925-4439(95)00036-4.
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.
我们综述了各种类型的线粒体DNA突变与线粒体糖尿病的患病率、病理生化及临床特征之间的关系。在不同国家和种族的糖尿病患者中，约1.5%的患者其tRNA(Leu(UUR))基因存在A到G的颠换突变，该突变与糖尿病相关。从表型上看，这类线粒体糖尿病患者中60%以上合并耳聋，并且在一些特征上临床上可与两种特发性糖尿病相区分。其潜在的发病机制可能是由于线粒体DNA缺陷导致线粒体ATP生成受损，进而引起胰岛素分泌延迟。
