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Plenge et al. [12] described nine females from two unrelated families who carried a promoter mutation in the XIST gene showed skewed XCI, and Sato et al. [17] reported that the incidence of skewed XCI was significantly higher in POI patients compared with controls (54.2% vs. 27.6% on ��70% skewing; 37.5% vs. 13.8% on ��80%; and 20.8% vs. 0.0% on ��90%). Considering these reports, it could be postulated that variation in the XIST gene leads to a preferential silencing of genes on the X chromosome related to the maintenance of ovarian function, and that this may serve as a susceptibility factor for POI. Therefore, the XIST gene is an attractive candidate gene for skewed XCI, which has been documented in the structural abnormalities of the X-chromosome, and could have a role in the pathogenesis of idiopathic POI. However, most studies of XIST mutation have focused on animals, and there is no large-scale association study in humans linking XIST mutation and POI. Even though we previously reported no significant difference in the incidence of skewed XCI between POI and control groups [18], it is still possible that underlying X-chromosome aberration is associated with idiopathic POI. Because the exact functional relationship between skewed XCI and POI is not yet elucidated, searching for JNK inhibitors high throughput screening genetic or chromosomal abnormalities, including skewed XCI, as risk factors for idiopathic POI is worthwhile. In this study, we therefore investigated whether variation in the XIST gene is associated with idiopathic POI in a sample of the Korean population. To do this, we analyzed the frequency of the C43G mutation in the promoter region of XIST in patients with idiopathic POI and in controls. Methods 1. Subjects A total of 102 idiopathic POI patients were enrolled, comprising 11 cases (10.8%) with primary amenorrhea and 91 cases (89.2%) with secondary amenorrhea. The applied diagnostic criteria for POI were as follows: ��4 months of amenorrhea and two serum follicle-stimulating hormone (FSH) levels of ��40 mIU/ml obtained ��1 month apart in women aged ��40 years [1]. All patients underwent gynecological examination with pelvic ultrasound evaluation and complete POI workup including autoimmune disease and karyotype analysis as described previously [18]. Patients with known causes of POI (i.e., cytogenetic abnormalities, previous chemo- or radiotherapy or bilateral oophorectomy) were excluded from this study. A total of 113 women who had normal menstrual cycles (21-35 days) and normal ovarian features according to ultrasonography served as controls. The review board for human research of Seoul National University Hospital approved this study and written informed consent was obtained from each participant. 2.