Lin He's Academician Workstation of New Medicine and Clinical Translation, Jining Medical University, Jining, China.
College of Second Clinical Medical, Jining Medical University, Jining, China.
Front Endocrinol (Lausanne). 2024 May 23;15:1393111. doi: 10.3389/fendo.2024.1393111. eCollection 2024.
Non-obstructive azoospermia (NOA) is a disease characterized by spermatogenesis failure and comprises phenotypes such as hypospermatogenesis, mature arrest, and Sertoli cell-only syndrome. Studies have shown that FA cross-linked anemia (FA) pathway is closely related to the occurrence of NOA. There are FA gene mutations in male NOA patients, which cause significant damage to male germ cells. The FA pathway is activated in the presence of DNA interstrand cross-links; the key step in activating this pathway is the mono-ubiquitination of the FANCD2-FANCI complex, and the activation of the FA pathway can repair DNA damage such as DNA double-strand breaks. Therefore, we believe that the FA pathway affects germ cells during DNA damage repair, resulting in minimal or even disappearance of mature sperm in males. This review summarizes the regulatory mechanisms of FA-related genes in male azoospermia, with the aim of providing a theoretical reference for clinical research and exploration of related genes.
非阻塞性无精子症（NOA）是一种以生精失败为特征的疾病，其表型包括生精障碍、成熟阻滞和唯支持细胞综合征等。研究表明，FA 交联贫血（FA）途径与 NOA 的发生密切相关。在男性 NOA 患者中存在 FA 基因突变，导致男性生殖细胞受到严重损害。FA 途径在存在 DNA 链间交联时被激活；激活该途径的关键步骤是 FANCD2-FANCI 复合物的单泛素化，FA 途径的激活可以修复 DNA 双链断裂等 DNA 损伤。因此，我们认为 FA 途径在 DNA 损伤修复过程中影响生殖细胞，导致男性成熟精子数量减少甚至消失。本综述总结了 FA 相关基因在男性无精子症中的调控机制，旨在为临床研究和相关基因的探索提供理论参考。
