Assessment of genetic variations of exons 8-13 of SUN5 gene and its protein expression in men with acephalic spermatozoa syndrome referring to Royan institute

Publish Year: 1398
نوع سند: مقاله کنفرانسی
زبان: English
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RMED08_094

تاریخ نمایه سازی: 21 مرداد 1398

Abstract:

Background: Infertility is a major problem in worldwide that affected 10-15% of couples. Approximately 40% of infertility issues are due to male factors. Therefore, evaluation of the causes of male infertility is important. One of the main causes of male infertility is associated with abnormal sperm morphology. Teratozoospermia is a condition characterized by the presence of spermatozoa with abnormal morphology in semen samples. Acephalic spermatozoa is a rare and severe form of teratozoospermia, that identified by headless tails and spermatozoa with an abnormal head-tail junction. The genetic cause of this disorder in human was unknown. Recent studies indicate that mutations in SUN5 (Sad1 and UNC84 domain containing 5) gene probably lead to acephalic spermatozoa syndrome. SUN5 gene encode a testis-specific protein and appears to play a role in the meiotic stage of spermatogenesis. It has essential role in junction between sperm head and tail. Also probably involved in nuclear envelope reconstitution and nuclear migration. Thus, this gene is an appropriate candidate in human studies.Objective: The purpose of current study was to evaluate the genetic variations of SUN5 gene. Thus, exons 8, 9, 10, 11, 12 and 13 of SUN5 gene were investigated in 20 infertile men with acephalic spermatozoa as case group and 20 fertile men as control group.Materials and Methods: Accordingly, we extracted DNA from blood samples, designed primers and performed PCR reactions, after that sanger sequencing was done and results were analyzed by Finch TV. Furthermore, we compared the protein expression in patients and control group by using western blotting.Results: Sequence results identified one homozygous variant in exon 13 (c.1073G> A [p.Arg358Gln]). This variant causes amino acid changing and leads to missense mutation. We didn t identify mutations in control group and the other case group. To confirm the results, evaluating protein expression by western blotting was done. We observed complete deletion of protein in mutant sample compared with normal protein.Conclusion: According to our findings and previous studies, it could be concluded that the mutations of SUN5 gene are led to acephalic spermatozoa syndrome, but these mutations are not existing in all patients, therefore it recommends to evaluate of other genes that could be led to acephalic spermatozoa syndrome.

Authors

S Aalinia

Department of Basic Science and Advanced Technologies in Biology, University of Science and Culture, Tehran, Iran

S Hosseini

Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

MA Sadighi Gilani

Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

M Sabbaghian

Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran