Introduction: Male infertility is a complex syndrome encompassing a broad spectrum of disorders. Among the significant factors contributing to male infertility is teratospermia, a disorder characterized by abnormal sperm morphology. One rare yet severe form of teratospermia is Acephalic Sperm Syndrome, which is investigated through endocrine evaluation. Acephalic Sperm Syndrome is defined by the presence of headless sperm during ejaculation. Previous research has identified several genes associated with Acephalic Sperm Syndrome, and this study focuses on investigating genetic changes in the ACTRT1 gene. ACTRT1, also known as T-actin-related protein or ARPT1, is specifically expressed in the testis and encoded by the ACTRT1 gene.
Methods: For this research, samples were collected from 10 infertile men with acephalic sperm and 10 healthy men with normal morphology serving as the control group. DNA extracted from blood samples in both the case and control groups was amplified using specific primers, and the resulting PCR products were sequenced.
Results: No mutations were detected in the ACTRT1 gene in either group.
Conclusion: Although this study did not establish a relationship between genetic changes in the ACTRT1 gene and sperm acephalic syndrome, further investigation of the gene's promoter region is warranted.