Human circBOULE RNAs as potential biomarkers for sperm quality and male infertility.

Reliable molecular biomarkers to predict fertility remain scarce. The current study explored the potential of testis-specific circBOULE RNAs as biomarkers for male infertility and sperm quality. Using RT-PCR and RT-qPCR assays, we identified seven circular RNAs from the human BOULE gene in human sperm. We found that sperm circEx3-6 RNA exhibited a significantly decreased expression in asthenozoospermia while circEx2-6 and circEx2-7 expression decreased in teratozoospermia, compared with the controls. Furthermore, circEx2-6 expression exhibited a negative correlation with sperm DNA Fragmentation Index (DFI), and circEx2-7 levels were correlated with both fertilization and cleavage rates involving assisted reproductive technologies. Further functional analyses in a transgenic fly model lent support for the roles of circBOULE RNAs in sperm development and human fertility. Collectively, our findings support that sperm circBOULE RNAs may serve as diagnostic biomarkers for assessing sperm motility and DNA quality. Hence clinical application and significance of sperm circular RNAs in assisted reproductive technologies warrant further investigation.

Journal of biomedical research. 2024 May 25 [Epub ahead of print]

Liping Cheng, He Jin, Tianheng Xiao, Xiaoyu Yang, Tingting Zhao, Eugene Yujun Xu

State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, Jiangsu 211166, China., Center for Clinical Reproduction, the First Affiliated Hospital with Nanjing Medical University & Jiangsu Province Hospital, Nanjing, Jiangsu 210029, China.