Hirai M, Suzuki S, Onoda M, Hinokio Y, Ai L, Hirai A, Ohtomo M, Komatsu K, Kasuga S, Satoh Y, Akai H, Toyota T
Third Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan.
Biochem Biophys Res Commun. 1996 Feb 27;219(3):951-5. doi: 10.1006/bbrc.1996.0324.
Mitochondrial DNA (mtDNA) mutation is associated with a subtype of non-insulin-dependent diabetes mellitus (NIDDM). We identified two homoplasmic mtDNA mutations at the positions of 3394 (T-C) and 3423 (G-T) in a NIDDM patient with clinical features of mitochondrial encephalopathy. The mtDNA 3394T-C mutation changed a conserved tyrosine to a histidine in NADH dehydrogenase subunit 1. The frequency of mtDNA 3994 T-C mutation was determined with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) in general NIDDM patients and nondiabetic control subjects. The mutation was seen in 4.9% of NIDDM patients and 1.3% of nondiabetic controls. It is indicated that the mtDNA 3394 T-C mutation is associated with NIDDM in Japan.
线粒体DNA（mtDNA）突变与非胰岛素依赖型糖尿病（NIDDM）的一个亚型相关。我们在一名具有线粒体脑病临床特征的NIDDM患者中，于3394（T-C）和3423（G-T）位置鉴定出两个纯质mtDNA突变。mtDNA 3394T-C突变使NADH脱氢酶亚基1中一个保守的酪氨酸变为组氨酸。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法测定了一般NIDDM患者和非糖尿病对照者中mtDNA 3994 T-C突变的频率。在4.9%的NIDDM患者和1.3%的非糖尿病对照者中发现了该突变。这表明在日本，mtDNA 3394 T-C突变与NIDDM相关。
