Newkirk J E, Taylor R W, Howell N, Bindoff L A, Chinnery P F, Alberti K G, Turnbull D M, Walker M
Department of Medicine, The Medical School, University of Newcastle upon Tyne, UK.
Diabet Med. 1997 Jun;14(6):457-60. doi: 10.1002/(SICI)1096-9136(199706)14:6<457::AID-DIA372>3.0.CO;2-W.
Maternally inherited diabetes and deafness (MIDD) is a new sub-type of diabetes and results from an A to G substitution at position 3243 of the mitochondrial tRNA(leu(UUR)) gene. This mutation is also associated with a neurological syndrome (MELAS). Recent studies have screened carefully selected diabetic populations and have reported MIDD prevalence rates ranging from undetectable to 60%. The aim of this work was to determine the importance of this sub-type in clinical practice by screening a routine hospital diabetic population. A total of 1440 patients (IDDM and NIDDM) of North European extraction attending two hospital diabetes services were initially screened by questionnaire. This identified 445 patients with one or more features of MIDD and/or MELAS and these subjects were then genotyped. Two patients were identified with the mutation giving a prevalence rate of 0.13% for the whole study population, and 0.45% for the sample with phenotypic features of MIDD. In conclusion, therefore, the 3243 mutation is associated with the phenotypically distinct MIDD sub-type, but this is rare in the routine hospital diabetic population.
母系遗传的糖尿病和耳聋（MIDD）是一种新型糖尿病亚型，由线粒体tRNA（亮氨酸（UUR））基因第3243位的A到G替换所致。该突变还与一种神经综合征（MELAS）相关。最近的研究对精心挑选的糖尿病患者群体进行了筛查，报告的MIDD患病率从检测不到到60%不等。这项工作的目的是通过对一家常规医院的糖尿病患者群体进行筛查，确定该亚型在临床实践中的重要性。最初，通过问卷调查对两家医院糖尿病门诊的1440名北欧裔患者（IDDM和NIDDM）进行了筛查。这确定了445名具有MIDD和/或MELAS一项或多项特征的患者，然后对这些受试者进行基因分型。鉴定出两名携带该突变的患者，整个研究群体的患病率为0.13%，具有MIDD表型特征的样本患病率为0.45%。因此，综上所述，3243突变与表型不同的MIDD亚型相关，但在常规医院的糖尿病患者群体中很少见。
