Maassen J A, Jansen J J, van den Ouweland J M, Hart L M, van Essen E H, Lemkes H H
Rijksuniversiteit, vakgroep Medische Biochemie, Leiden.
Ned Tijdschr Geneeskd. 1998 Jan 31;142(5):229-33.
Diabetes mellitus comprises many subtypes, the pathogenesis of each of which involves a combination of inherited and environmental factors. Recently a new subtype of diabetes mellitus was recognized in a Dutch pedigree, designated as 'maternally inherited diabetes and deafness' (MIDD). Impaired hearing is an associated phenomenon of the disease. Approximately 1.3% of all diabetic cases in the Netherlands exhibit the MIDD subtype. MIDD shows a strictly maternal heredity. In MIDD there is a guanine-for-adenine substitution at position 3243 in mitochondrial DNA. Mitochondria carrying this mutation exhibit a decreased functionality. In carriers of the MIDD mutation the insulin secretion by the pancreas in response to stimulation by glucose is impaired.
糖尿病包括许多亚型，每种亚型的发病机制都涉及遗传因素和环境因素的共同作用。最近，在一个荷兰家系中发现了一种新的糖尿病亚型，称为“母系遗传糖尿病伴耳聋”（MIDD）。听力受损是该疾病的一个相关现象。在荷兰，所有糖尿病病例中约有1.3%表现为MIDD亚型。MIDD表现出严格的母系遗传。在MIDD中，线粒体DNA的3243位存在鸟嘌呤替代腺嘌呤的情况。携带这种突变的线粒体功能下降。在MIDD突变携带者中，胰腺对葡萄糖刺激的胰岛素分泌受损。
