Female infertility from oocyte maturation arrest: assembling the genetic puzzle.
Female infertility from oocyte maturation arrest: assembling the genetic puzzle.
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DOI：
10.15252/emmm.202317729
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发表时间：
2023-06-07
影响因子：
11.1
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中科院分区：
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辅助生殖程序经常遇到一个称为卵母细胞成熟停滞（OMA）的问题，这表现为使用一些不孕妇女的卵母细胞进行IVF/ICSI尝试失败。在这一期的EMBO分子医学中，Wang等人鉴定了携带PABPC 1 L基因中新型DNA序列变体的不孕妇女，该基因对母体mRNA的翻译至关重要。通过进行一系列体外和体内实验，他们证明了某些变异是OMA的原因，证实了PABPC 1 L在人类卵母细胞成熟中的保守需求。这项研究为治疗OMA患者提供了一个有前途的治疗靶点。Schimenti和X. Ding讨论了Weijie Wang等人的研究（在本期EMBO Mol Med上），该研究报告了PABPC 1 L中导致卵母细胞成熟停滞和女性不育的新型致病性变体。
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. 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.