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多囊卵巢综合征在育龄妇女中的发病率为5-10%[1], 是常见的内分泌 英语口译、代谢紊乱疾病[2], 除可引起女性不孕以外, 还能导致内膜癌、糖尿病、心血管疾病等远期合并症。其发病机制至今尚不明确。 As a common endocrine and metabolic disturbance disease[2], the incidence of PCOS in women of child bearing age is 5-10%, leading to not only female sterility, but also other complications such as endometrial cancer, diabetes, and cardiovascular diseases in the long term. Pathological mechanism of this disease is still not clear even today.
一般认为, PCOS是遗传因素与环境因素共同作用的临床综合症候群, 有关病因及发病机制的研究涉及到垂体-卵巢轴的功能异常、高雄激素血症、胰岛素抵抗、遗传因素等。虽然近年的许多研究认为, 胰岛素抵抗以及由此而引起的高胰岛素血症可能在PCOS发病的过程中起关键作用[3, 4, 5], 但其具体作用机制尚不明确。由于并非所有PCOS患者均有胰岛素抵抗, 且患有二型糖尿病的女性患者也并非均合并有卵巢功能障碍, 因此, 目前的研究尚不能证实胰岛素抵抗为PCOS发病的直接病因, PCOS的发病机制仍有待进一步的研究。
It was generally accepted that PCOS was a clinical syndrome resulted from both genetic factors and environmental factors, and the research for the cause of disease and pathological mechanism involved the functional abnormality of hypophysis-ovarian axis, Hyperandrogenemia, Insulin Resistance, and genetic factors, etc. Although in recent years, there had been many researches leading to the conclusion that insulin resistance and hyperinsulinemia thereby may play a key role in the incidence of PCOS [3,4,5], however the exact acting mechanism in detail is still not clear. Since not all PCOS patients have insulin resistance, furthermore not all female patients with Type II Diabetes are complicated with Ovary dysfunction, therefore, current research could not prove that insulin resistance is the direct cause of PCOS incidence yet, further research is required for the pathological mechanism of PCOS.
外核苷酸焦磷酸酶/碱性磷酸二脂酶I (Ecto-Nucleotide Pyrophosphatase/Phosphodiesterase 1 , ENPP1)基因定位于6q22-23, 共含有25个外显子[6,7]。其基因产物分布于脂肪、肌肉、肝脏、骨骼等体细胞表面。ENPP1过表达与机体发生胰岛素抵抗具有相关性[8-15]。1999年Pizzuti发现了编码细胞外区域第4外显子的一个突变位点(dbSNP: rs1044498), 导致121编码区所编码的氨基酸由赖氨酸变为谷氨酰胺即K121Q[16] 。该突变经证实亦与胰岛素抵抗相关[17]。2004年Seppo等在芬兰人中进行了流行病学调查, 发现 ENPP1 121Q基因多态性与PCOS发病具有相关性, 但是并未就是否合并有胰岛素抵抗作进一步的分析[18]。本研究检测了PCOS患者ENPP1 K121Q基因多态性分布, 探讨其与PCOS发病以及临床表现之间的相关关系; 并且进一步研究了去除胰岛素抵抗影响后, ENPP1 K121Q基因多态性与PCOS发病的独立相关性。以期寻找PCOS的发病原因 广州英语翻译。
Ecto-Nucleotide Pyrophosphatase/Phosphodiesterase 1 , ENPP1 Gene is located at 6q22-23, including 25 exons[6,7]. Its gene products are distributed on the surfaces of somatocytes in fats, muscles, liver and skeleton. The over expression of ENPP1 correlates with insulin resistance in human body[8-15]. In 1999, Pizzuti discovered that a mutant site located on the 4th exon encoding extracellular domain (dbSNP:rs1044498), leading to the change of amino acid encoded by coding domain 121 from lysine to glutamine, namely K121Q[16]. The present mutation was proved to be correlated with insulin resistance [17]. In 2004, Seppo, et al. carried out epidemiological investigation in Finland, finding that the genetic polymorphism of ENPP1 121Q gene correlated with the incidence of PCOS, however further analysis were not carried out to find out whether or not it was complicated with insulin resistance [18]. The present research examined the genetic polymorphism distribution of ENPP1 K121Q Gene in PCOS patients, to explore its correlations with PCOS incidence and clinical manifestations; and after elimination of the influence of insulin resistance in further research, the genetic polymorphism of ENPP1 K121Q Gene was independently correlated with PCOS incidence. And it was expected to find the pathological causes of PCOS. |
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