Loss-of-Function SSFA2 Variants Disrupt Fertility Through Impaired Acrosome Formation and Sperm Function - PubMed
3 days ago
- #male infertility
- #SSFA2
- #acrosome formation
- Loss-of-function variants in SSFA2 disrupt male fertility by impairing acrosome formation and sperm function.
- Clinical analysis and mouse models show SSFA2 deficiency affects sperm head morphology, mitochondrial distribution, and calcium signaling.
- Mutant sperm fail to trigger calcium oscillations in oocytes, leading to fertilization failure.
- Intracytoplasmic sperm injection (ICSI) can partially rescue fertilization, but early embryonic development remains compromised.
- SSFA2 is identified as a critical regulator of acrosomal biogenesis and sperm function, offering insights into male infertility.