van den Ouweland J M, Lemkes H H, Gerbitz K D, Maassen J A
Department of Medical Biochemistry, Sylvius Laboratory, Leiden, The Netherlands.
Muscle Nerve Suppl. 1995;3:S124-30. doi: 10.1002/mus.880181425.
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.
我们最近在一个患有母系遗传糖尿病和耳聋（MIDD）的大型荷兰家系中，描述了tRNA(Leu)(UUR)基因中np 3243处的线粒体DNA（mtDNA）点突变，这说明了线粒体功能在维持适当葡萄糖稳态中的重要性。在这篇综述中，我们将重点关注糖尿病群体中np 3243处mtDNA突变的患病率，并推测其致病的一些工作模型。
