The role of CFTR channel in female infertility.

IF 2.1 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Human Fertility Pub Date : 2023-12-01 Epub Date: 2022-12-28 DOI:10.1080/14647273.2022.2161427
Mahmoud M Habibullah
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引用次数: 1

Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-activated trans-membrane ATP gated anion channel present in most epithelia, which transports chloride and bicarbonate ions across the apical membrane. Mutations in the CFTR protein are known to result in defective expression or function, notably the inhibition of chloride and bicarbonate transport. This can result in cystic fibrosis (CF), a disorder characterised by thickness of the mucus lining of the epithelial cells of the alimentary and respiratory tracts, sweat ducts and reproductive organs. As a consequence, there is a reduction in fluid transport at the apical surface. While the most devastating effect of CF is mortality, about 98% of men with CF are infertile, consequent of early blockage of or failure to develop the mesonephrotic ducts as well as the vas deferens. The effect of CF of female fertility is less well-understood. This review highlights the genetics and pathophysiology as well as the mechanism of action of CF on female infertility.

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CFTR 通道在女性不孕症中的作用。
囊性纤维化跨膜传导调节因子(CFTR)是一种由 cAMP 激活的跨膜 ATP 门控阴离子通道,存在于大多数上皮细胞中,可将氯离子和碳酸氢根离子转运至顶端膜。已知 CFTR 蛋白的突变会导致表达或功能缺陷,特别是抑制氯离子和碳酸氢盐的转运。这可能导致囊性纤维化(CF),这是一种以消化道、呼吸道、汗管和生殖器官上皮细胞粘液内膜变厚为特征的疾病。因此,顶端表面的液体运输减少。CF 最严重的后果是导致死亡,而大约 98% 的男性 CF 患者无法生育,这是由于中肾管和输精管早期阻塞或发育不良造成的。CF对女性生育能力的影响还不太清楚。本综述将重点介绍 CF 对女性不孕症的遗传学、病理生理学和作用机制。
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来源期刊
Human Fertility
Human Fertility OBSTETRICS & GYNECOLOGY-REPRODUCTIVE BIOLOGY
CiteScore
3.30
自引率
5.30%
发文量
50
期刊介绍: Human Fertility is a leading international, multidisciplinary journal dedicated to furthering research and promoting good practice in the areas of human fertility and infertility. Topics included span the range from molecular medicine to healthcare delivery, and contributions are welcomed from professionals and academics from the spectrum of disciplines concerned with human fertility. It is published on behalf of the British Fertility Society. The journal also provides a forum for the publication of peer-reviewed articles arising out of the activities of the Association of Biomedical Andrologists, the Association of Clinical Embryologists, the Association of Irish Clinical Embryologists, the British Andrology Society, the British Infertility Counselling Association, the Irish Fertility Society and the Royal College of Nursing Fertility Nurses Group. All submissions are welcome. Articles considered include original papers, reviews, policy statements, commentaries, debates, correspondence, and reports of sessions at meetings. The journal also publishes refereed abstracts from the meetings of the constituent organizations.
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