Polymorphism of the testis-specific serine/threonine kinase 2 gene and risk of asthenozoospermia in Côte d'Ivoire

ABSTRACT

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.