A loss-of-function variant in SSFA2 causes male infertility with globozoospermia and failed oocyte activation

Autor: Gelin Huang, Xueguang Zhang, Guanping Yao, Lin Huang, Sixian Wu, Xiaoliang Li, Juncen Guo, Yuting Wen, Yan Wang, Lijun Shang, Na Li, Wenming Xu
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Reproductive Biology and Endocrinology, Vol 20, Iss 1, Pp 1-13 (2022)
Druh dokumentu: article
ISSN: 1477-7827
DOI: 10.1186/s12958-022-00976-5
Popis: Abstract Globozoospermia (OMIM: 102530) is a rare type of teratozoospermia ( A; p.R1224Q) in the patient. This variant significantly reduced the protein expression of SSFA2. Immunofluorescence staining showed positive SSFA2 expression in the acrosome of human sperm. Liquid chromatography–mass spectrometry/mass spectrometry (LC–MS/MS) and Coimmunoprecipitation (Co-IP) analyses identified that GSTM3 and Actin interact with SSFA2. Further investigation revealed that for the patient, regular intracytoplasmic sperm injection (ICSI) treatment had a poor prognosis. However, Artificial oocyte activation (AOA) by a calcium ionophore (A23187) after ICSI successfully rescued the oocyte activation failure for the patient with the SSFA2 variant, and the couple achieved a live birth. This study revealed that SSFA2 plays an important role in acrosome formation, and the homozygous c.3671G > A loss-of-function variant in SSFA2 caused globozoospermia. SSFA2 may represent a new gene in the genetic diagnosis of globozoospermia, especially the successful outcome of AOA-ICSI treatment for couples, which has potential value for clinicians in their treatment regimen selections.
Databáze: Directory of Open Access Journals
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