期刊
FASEB JOURNAL
卷 35, 期 8, 页码 -出版社
WILEY
DOI: 10.1096/fj.202100756R
关键词
mitochondrial functions; ovarian senescence; premature ovarian insufficiency
资金
- National Natural Science Foundation of China (NSFC) [31970800]
- National Key Research & Developmental Program of China [2019YFA0110900, 2017YFC1001100]
- Key International (Regional) Cooperative Research
Ovarian infertility and subfertility are major challenges in developed countries due to the trend of delayed childbirth. Through genetic studies, genes related to premature ovarian insufficiency and ovarian senescence have been identified, especially those crucial for DNA repair, meiosis, and mitochondrial functions.
Ovarian infertility and subfertility presenting with premature ovarian insufficiency (POI) and diminished ovarian reserve are major issues facing the developed world due to the trend of delaying childbirth. Ovarian senescence and POI represent a continuum of physiological/pathophysiological changes in ovarian follicle functions. Based on advances in whole exome sequencing, evaluation of gene copy variants, together with family-based and genome-wide association studies, we discussed genes responsible for POI and ovarian senescence. We used a gene-centric approach to sort out literature deposited in the Ovarian Kaleidoscope database () by sub-categorizing candidate genes as ligand-receptor signaling, meiosis and DNA repair, transcriptional factors, RNA metabolism, enzymes, and others. We discussed individual gene mutations found in POI patients and verification of gene functions in gene-deleted model organisms. Decreased expression of some of the POI genes could be responsible for ovarian senescence, especially those essential for DNA repair, meiosis and mitochondrial functions. We propose to set up a candidate gene panel for targeted sequencing in POI patients together with studies on mitochondria-associated genes in middle-aged subfertile patients.
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