Chon Seung Joo, Umair Zobia, Yoon Mee-Sup
Department of Obstetrics and Gynecology, Gachon University Gil Medical Center, College of Medicine, Gachon University, Incheon, South Korea.
Department of Molecular Medicine, College of Medicine, Gachon University, Incheon, South Korea.
Front Cell Dev Biol. 2021 May 10;9:672890. doi: 10.3389/fcell.2021.672890. eCollection 2021.
Premature ovarian insufficiency (POI) is the loss of normal ovarian function before the age of 40 years, a condition that affects approximately 1% of women under 40 years old and 0.1% of women under 30 years old. It is biochemically characterized by amenorrhea with hypoestrogenic and hypergonadotropic conditions, in some cases, causing loss of fertility. Heterogeneity of POI is registered by genetic and non-genetic causes, such as autoimmunity, environmental toxins, and chemicals. The identification of possible causative genes and selection of candidate genes for POI confirmation remain to be elucidated in cases of idiopathic POI. This review discusses the current understanding and future prospects of heterogeneous POI. We focus on the genetic basis of POI and the recent studies on non-coding RNA in POI pathogenesis as well as on animal models of POI pathogenesis, which help unravel POI mechanisms and potential targets. Despite the latest discoveries, the crosstalk among gene regulatory networks and the possible therapies targeting the same needs to explore in near future.
卵巢早衰(POI)是指40岁之前卵巢功能丧失,这种情况影响约1%的40岁以下女性以及0.1%的30岁以下女性。其生化特征为闭经伴雌激素缺乏和促性腺激素水平升高,在某些情况下会导致生育能力丧失。POI的异质性由遗传和非遗传原因引起,如自身免疫、环境毒素和化学物质。在特发性POI病例中,确定可能的致病基因以及选择用于POI确诊的候选基因仍有待阐明。本综述讨论了异质性POI的当前认识和未来前景。我们重点关注POI的遗传基础、POI发病机制中关于非编码RNA的最新研究以及POI发病机制的动物模型,这些有助于揭示POI的机制和潜在靶点。尽管有最新发现,但基因调控网络之间的相互作用以及针对此的可能疗法仍需在不久的将来进行探索。