Mitochondrial gene mutations in familial non‐insulin‐dependent diabetes mellitus in Taiwan
Mitochondrial gene mutations in familial non‐insulin‐dependent diabetes mellitus in Taiwan
复制标题
台湾家族性非胰岛素依赖型糖尿病的线粒体基因突变
作者：
L. Chuang;Huey‐Peir Wu;K. Chiu;C. Lai;T. Tai;B. J. Lin
线粒体基因突变被发现会导致某些形式的糖尿病和相关综合征。为研究台湾地区非胰岛素依赖型糖尿病（NIDDM）患者线粒体基因突变的患病率，从台湾北方地区连续收集了23个多兄弟姐妹患有NIDDM的患者家系。通过PCR-RFLP方法筛选tRNALeu基因3243 np位A → G突变和8344位突变，并通过直接DNA序列分析确认。在23个NIDDM家系中，发现1个家系携带3243 np突变。本组病例均未发现8344 bp突变。该家系的临床特征在母体传播、相对早发型、非肥胖、胰岛素需求和与听力损害相关性方面与线粒体疾病一致。白细胞线粒体基因突变的异质性程度与临床严重程度无关。我们的结论是，线粒体基因缺陷是一个重要的遗传因素，在家族性病例与NIDDM在台湾。
Mitochondrial gene mutations are found to cause certain forms of diabetes mellitus and related syndromes. To study the prevalence of mitochondrial gene mutations in subjects with non‐insulin‐dependent diabetes mellitus (NIDDM) in Taiwan, 23 pedigrees with multiple siblings affected with NIDDM were consecutively collected from patients living in northern Taiwan. The A‐to‐G mutation at position 3243 np in the tRNALeu gene and the mutation at position 8344 were screened by PCR‐RFLP methods and confirmed by direct DNA sequence analysis. Among 23 NIDDM pedigrees, one pedigree was found to carry the 3243 np mutation. There was no 8344 np mutation in this series. Clinical features of this pedigree were consistent with mitochondrial disease in terms of maternal transmission, relatively early onset, non‐obesity, insulin‐requirement and association with hearing impairment. There was no correlation between the degree of heteroplasmy of mitochondrial gene mutation in leukocyte DNA and clinical severity. We conclude that a mitochondrial gene defect is an important genetic factor in familial cases with NIDDM in Taiwan.
影响因子：
158.5
作者：
FROGUEL, P;ZOUALI, H;COHEN, D
通讯作者：
COHEN, D