An investigation on genetic mutations affecting embryo, oocyte, and sperm quality: An IVF failure perspective

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene Pub Date : 2025-02-01 DOI:10.1016/j.humgen.2025.201384

Tahereh Barati , Zohreh Mirzaei , Amir Ebrahimi , Davood Ghavi , Mahmoud Shekari Khaniani , Sima Mansoori Derakhshan

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Abstract

Successful reproduction in humans requires high-quality gametes and successful fertilization. Disruptions in oocyte and sperm maturation can cause infertility and IVF/ICSI procedure failure. Identifying valuable molecular markers is critical for understanding the genetic basis of these failures and assessing gamete quality. In this review, we have described the mutations that affect oocyte, embryo, and sperm quality at each stage of maturation. Genes such as TUBB8, BTG4, PADI6, MEI1, REC114, TLE6, KHDC3L, WEE2, PATL2, NLRP5, CHK1, ZP1, ZP2, and ZP3 are discussed for their roles in oocyte maturation, fertilization, zygote cleavage, and early embryonic development. As well as genes like KCNU1, DNAH6, HAUS7, PLCζ, ZDHHC19, CFTR, DAZ, CATSPER2, 3, and DNAH2 are explored for their influence on sperm morphology, motility, and count. These genetic markers and variants will serve as the basis for personalized genetic counseling and possible patient therapies.

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