Female infertility from oocyte maturation arrest: assembling the genetic puzzle

Abstract

Assisted reproduction procedures often encounter an issue called oocyte maturation arrest (OMA), which is manifested as failed IVF/ICSI attempts using oocytes from some infertile women. In this issue of EMBO Molecular Medicine, Wang et al identify infertile women bearing novel DNA sequence variants in a gene called PABPC1L, which is essential for translation of maternal mRNAs. By conducting a series of in vitro and in vivo experiments, they demonstrated certain variants as being causal for OMA, confirming a conserved requirement for PABPC1L in human oocyte maturation. This study offers a promising therapeutic target for treating OMA patients.

Abstract

J. Schimenti and X. Ding discuss the study by Weijie Wang et al (in this issue of EMBO Mol Med) that reports novel pathogenic variants in PABPC1L that cause oocyte maturation arrest and female infertility.