Saeed Noor AlHuda Ali A H, Hamzah Israa Hussein, Al-Gharrawi Samar Abdul Raheem
Branch of Zoology, Biology Department, College of Science, Mustansiriyah University, POX 10422, Baghdad, Iraq.
Dept. of Basic Science, College of Dentistry, Mustansiriyah University, POX 10422, Baghdad, Iraq.
BMC Res Notes. 2019 Jul 24;12(1):455. doi: 10.1186/s13104-019-4453-3.
Study analyzes mutation in mtDNA (Mitochondrial DNA) among diabetic women with PCOS in non-diabetic diabetic women and compared with the healthy control. Women with known case of hyperandrogenism, ovulatory dysfunction and/or polycystic ovaries were selected and anthropometric and demographic variables were collected during their clinical visit. Biochemical estimation of glucose, FSH, LH, estradiol (E2), and insulin levels were analyzed. Mutational analysis of mt-tRNA genes of each individual was compared with the updated consensus Cambridge sequence. The mtDNA content was determined in triplicate using SYBR green PCR mastermix.
The clinical and biochemical characteristics of participants showed no statistical difference in age and/or FSH, PRL, E2, PRGE or fasting glucose value between patients of different groups. Women with PCOS-D had significantly higher LH, LH/FSH, TT and fasting insulin levels and HOMA-IR with respect to the control group. Ten different type of mutation were seen in POCS group. Most of these mutations were confined to evolutionarily conserved region. The mtDNA copy numbers were considerably lower PCOS group irrespective of diabetic status. To conclude, the current study inferred that the mutations occur in the mitochondrial genome, mt-tRNA in specific, are the important causal factor in PCOS.
本研究分析患有多囊卵巢综合征（PCOS）的糖尿病女性与非糖尿病女性线粒体DNA（mtDNA）中的突变情况，并与健康对照组进行比较。选取已知患有高雄激素血症、排卵功能障碍和/或多囊卵巢的女性，在她们临床就诊期间收集人体测量和人口统计学变量。分析血糖、促卵泡生成素（FSH）、促黄体生成素（LH）、雌二醇（E2）和胰岛素水平的生化指标。将每个个体的线粒体转运RNA（mt-tRNA）基因突变分析结果与最新的剑桥序列共识进行比较。使用SYBR Green PCR预混液对mtDNA含量进行三次重复测定。
不同组患者的临床和生化特征显示，在年龄和/或FSH、催乳素（PRL）、E2、孕酮（PRGE）或空腹血糖值方面无统计学差异。与对照组相比，患有PCOS合并糖尿病（PCOS-D）的女性LH、LH/FSH、总睾酮（TT）和空腹胰岛素水平以及胰岛素抵抗指数（HOMA-IR）显著更高。在PCOS组中发现了10种不同类型的突变。这些突变大多局限于进化保守区域。无论糖尿病状态如何，PCOS组的mtDNA拷贝数都显著更低。总之，本研究推断线粒体基因组中发生的突变，特别是mt-tRNA中的突变，是PCOS的重要致病因素。
