Ballinger S W, Shoffner J M, Hedaya E V, Trounce I, Polak M A, Koontz D A, Wallace D C
Department of Genetics, Emory University School of Medicine, Atlanta, Georgia 30322.
Nat Genet. 1992 Apr;1(1):11-5. doi: 10.1038/ng0492-11.
Diabetes mellitus (DM) is one of the most common chronic disorders of children and adults. Several reports have suggested an increased incidence of maternal transmission in some forms of DM. Therefore, we tested a pedigree with maternally transmitted DM and deafness for mitochondrial DNA mutations and discovered a 10.4 kilobase (kb) mtDNA deletion. This deletion is unique because it is maternally inherited, removes the light strand origin (OL) of mtDNA replication, inhibits mitochondrial protein synthesis, and is not associated with the hallmarks of mtDNA deletion syndromes. This discovery demonstrates that DM can be caused by mtDNA mutations and suggests that some of the heterogeneity of this disease results from the novel features of mtDNA genetics.
糖尿病（DM）是儿童和成人中最常见的慢性疾病之一。多项报告表明，某些形式的糖尿病中母系遗传的发生率有所增加。因此，我们对一个患有母系遗传糖尿病和耳聋的家系进行了线粒体DNA突变检测，发现了一个10.4千碱基（kb）的线粒体DNA缺失。这种缺失是独特的，因为它是母系遗传的，去除了线粒体DNA复制的轻链起点（OL），抑制线粒体蛋白质合成，并且与线粒体DNA缺失综合征的特征无关。这一发现表明糖尿病可能由线粒体DNA突变引起，并提示该疾病的一些异质性源于线粒体DNA遗传学的新特征。
