Objective:
The relationship between mitochondrial DNA (mtDNA) polymorphisms and abnormalities in sperm quality has been the subject of several studies, with the objective of improving the treatment of male infertility. This study, which contributes to the identification of genetic markers of sperm abnormalities, was conducted to study mtDNA mutations in the asthenozoospermia profile.
Methods:
This case-control study included 30 patients with asthenozoospermia and 28 with normospermia after spermogram and spermocytogram analyses. After the extraction of total DNA from the spermatozoa of 58 ejaculates from these individuals using the phenol-chloroform method, the amplification of genes of interest in mtDNA using specific primers was performed by conventional polymerase chain reaction, and sequencing was used to detect mutations.
Results:
Male patients with asthenozoospermia in the tertiary sector had significantly more mutant- than wild-type (P = 0.0005) MT-CO II genes. Similarly, for the same gene, males with asthenozoospermia and primary infertility had significantly more mutants than the wild-type (P = 0.001). Sequencing revealed 29 mutations that were observed only with asthenozoospermia, which could be the basis for low sperm mobility.
Conclusion:
This study identified several mutations in mtDNA genes that could be considered genetic markers of asthenozoospermia if confirmed in a deeper study.
Background: The testis-specific serine/threonine protein kinase (TSSK2) is an indispensable protein responsible for the mobility of spermatozoa expressed specifically in the germ cells during spermatogenesis and present in the mature spermatozoa. Its gene mutation could constitute a risk of infertility. The aim of this study is to investigate the polymorphism of this TSSK2 gene in men with asthenozoospermia.Methods: The ejaculates were obtained from patients attending the reproductive biology unit of Institut Pasteur of Côte d’Ivoire for their spermiological evaluations. The semen analyses are performed with the automatic sperm analyzer SQA-Vision. 30 sperms, including 20 asthenozoosperms and 10 normosperms, were selected from their spermiological results and the spermatozoa DNA was extracted by the phenol/chloroform method. Direct Sequencing of the spermatozoa DNA fragments was done using the Sanger method. The frequencies of mutation were analysis with the Fisher and Mann-Whitney tests. Results: It was revealed 17 mutations in 22 ejaculates. The frequent mutations are c.839C>T (T280M), c.816G>C (L372L), c.1026G>A (R342R), c.785A>C (H262P) and c.80A>G (K27R) with respectively frequencies of 50.0%, 26.67%, 16.67%, 13.33% and 10.0%. The analysis of these mutations indicated a significant difference in the frequency of occurrence of mutations between normosperms and asthenozoosperms (p-value = 0.01).Conclusions: This study shows that mutations in the TSSK2 gene are more common in asthenozoosperm ejaculates than normosperm ejaculates. This fact suggests the probable association of mutations in the TSSK2 gene with asthenozoospermia.
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