Nakagawa Y, Ikegami H, Yamato E, Takekawa K, Fujisawa T, Hamada Y, Ueda H, Uchigata Y, Miki T, Kumahara Y
Department of Geriatric Medicine, Osaka University Medical School, Japan.
Biochem Biophys Res Commun. 1995 Apr 17;209(2):664-8. doi: 10.1006/bbrc.1995.1550.
Mitochondria play an important role in glucose-induced insulin secretion in pancreatic beta cells. We therefore examined whether patients with NIDDM exhibit genetic variability in mitochondrial DNA (mtDNA), a candidate gene for NIDDM. We sequenced mtDNA in the region encoding tRNALeu and the adjacent region in several diabetic patients with clinical features suggesting mitochondrial DNA mutations. We found a new point mutation at position 3316 that leads to an amino acid change in the ND-1 protein. The frequency of the mutation was screened with PCR-RFLP in 295 NIDDM patients and 406 controls. We found ten NIDDM patients (3.4%) harbored the mutation. Although 4 control subjects had the mutation, the frequency was significantly higher in the NIDDM patients than in the control subjects (p = 0.02). These results suggest that the 3316 mutation is associated with NIDDM.
线粒体在胰腺β细胞的葡萄糖诱导胰岛素分泌中起重要作用。因此，我们研究了非胰岛素依赖型糖尿病（NIDDM）患者的线粒体DNA（mtDNA）是否存在遗传变异性，mtDNA是NIDDM的一个候选基因。我们对几名具有提示线粒体DNA突变临床特征的糖尿病患者编码tRNALeu的区域及相邻区域的mtDNA进行了测序。我们在3316位点发现了一个新的点突变，该突变导致ND-1蛋白中的一个氨基酸改变。用PCR-RFLP对295例NIDDM患者和406名对照者进行了该突变频率的筛查。我们发现10例NIDDM患者（3.4%）携带该突变。虽然4名对照者有此突变，但NIDDM患者中的突变频率显著高于对照者（p = 0.02）。这些结果提示3316位点的突变与NIDDM相关。
