Yanagisawa K, Uchigata Y, Sanaka M, Sakura H, Minei S, Shimizu M, Kanamuro R, Kadowaki T, Omori Y
Diabetes Center, Tokyo Women's Medical College, Japan.
Diabetologia. 1995 Jul;38(7):809-15. doi: 10.1007/s001250050357.
Mitochondrial DNA is exclusively maternally inherited. We recently found the prevalence of diabetic patients with an A to G transition at position 3243 of leucine tRNA (3243 base pair (bp) mutation) to be nearly 1% in randomly selected Japanese subjects. Here, we report the higher prevalence of diabetic patients with the 3243 bp mutation in a specific Japanese population of women attending a diabetic pregnancy clinic. Of 102 patients with non-insulin-dependent diabetes mellitus 6 (5.9%) were positive for the mutation, 1 (8.3%) of 12 patients with gestational diabetes and 2 (5.9%) out of 34 borderline diabetic patients. In contrast, none of 64 patients (0%) with insulin-dependent diabetes mellitus had the 3243 bp mutation. Moreover, there was a difference in the prevalence of spontaneous abortions between patients with and without this mutation (27.3 vs 12.4%). Among nine probands with the mutation, four had a history of one spontaneous abortion (p = 0.0518) and two had a history of two abortions (p = 0.0479). Two probands had a spontaneous abortion even while under strict diabetic metabolic control. The 3243 bp mutation thus may cause spontaneous abortion during pregnancy.
线粒体DNA仅通过母系遗传。我们最近发现，在随机选取的日本受试者中，亮氨酸转运RNA第3243位发生A到G转换（3243碱基对（bp）突变）的糖尿病患者患病率接近1%。在此，我们报告在一家糖尿病妊娠诊所就诊的特定日本女性人群中，携带3243 bp突变的糖尿病患者患病率更高。在102例非胰岛素依赖型糖尿病患者中，6例（5.9%）突变呈阳性；12例妊娠糖尿病患者中有1例（8.3%）；34例边缘性糖尿病患者中有2例（5.9%）。相比之下，64例胰岛素依赖型糖尿病患者中无一例（0%）有3243 bp突变。此外，有此突变和无此突变的患者自然流产率存在差异（27.3%对12.4%）。在9例携带该突变的先证者中，4例有过1次自然流产史（p = 0.0518），2例有过2次流产史（p = 0.0479）。2例先证者即使在严格的糖尿病代谢控制下仍发生了自然流产。因此，3243 bp突变可能导致妊娠期自然流产。
