Center For Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.
Mol Cell Endocrinol. 2018 Jan 15;460:170-180. doi: 10.1016/j.mce.2017.07.021. Epub 2017 Jul 23.
Primary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis of the disease. Some studies based on next generation sequencing (NGS) have been successfully undertaken as they have led to identify new mutations associated with POI aetiology. The purpose of this review is to present the most relevant molecules involved in diverse complex pathways, which may contribute towards POI. The main genes participating in bipotential gonad formation, sex determination, meiosis, folliculogenesis and ovulation are described to enable understanding how they may be considered putative candidates involved in POI. Considerations regarding NGS technical aspects such as design and data interpretation are mentioned. Successful NGS initiatives used for POI studying and future challenges are also discussed.
原发性卵巢功能不全 (POI) 是一种常见的病理，导致不孕。POI 中已描述了遗传异常，并且许多基因的突变已明确与疾病的发病机制相关。一些基于下一代测序 (NGS) 的研究已经成功进行，因为它们导致确定了与 POI 病因相关的新突变。本综述的目的是介绍涉及多种复杂途径的最相关分子，这些分子可能有助于 POI。描述了参与双潜能性腺形成、性别决定、减数分裂、卵泡发生和排卵的主要基因，以了解它们如何被认为是潜在的与 POI 相关的候选基因。还提到了有关 NGS 技术方面的考虑因素，例如设计和数据解释。还讨论了用于 POI 研究的成功 NGS 计划以及未来的挑战。
