Research Progress of Fanconi Anemia Related Genes and Premature Ovarian Insufficiency

doi:10.12280/gjfckx.20230003

Abstract

Abstract:

Premature ovarian insufficiency (POI) is an important cause leading to female infertility with a prevalence of >1%. Fanconi anemia (FA) is a disease characterized by bone marrow failure, birth defects, cancer predisposition, and increased sensitivity to DNA interstrand cross-link agents. The FA related genes, known for their important role in the repair of DNA interstrand cross-links, have been shown to be involved in germ cell development. Approximately half of FA females have impaired fertility, whereas almost FA males are infertile. Up to now, at least 22 FA related genes have been found and identified. The FA gene-deficient mouse models show different effects on reproductive function. In mild cases, the mice could have their offspring despite the fertility being reduced, while in severe cases, the fertility of mice is completely lost with the abnormal gonads congenitally. There are also increasing reports of infertility caused by FA gene defects. Abnormalities in primordial germ cells proliferation and meiosis are considered to be the main causes of infertility in FA patients. Studies have shown that genes involved in meiosis, DNA damage repair and mitosis are a large family of genes that cause POI. Therefore, the role of FA genes in follicle development and fertility maintenance needs to be paid more attention.

Key words: Primary ovarian insufficiency, Fanconi anemia, DNA damage, Meiosis, Homologous recombination, Mutation

WEN Xing-xing, CHAI Meng-han, YANG Ni, YANG Dan-dan, ZOU Hui-juan, ZHANG Wen-xiang, CHEN Bei-li. Research Progress of Fanconi Anemia Related Genes and Premature Ovarian Insufficiency[J]. Journal of International Obstetrics and Gynecology, 2023, 50(4): 450-455.

Figures/Tables 1

References 34

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