Evaluating the genetic variations of arpt1 gene in infertile men with abnormality in sperm head morphology referring to royan institute.

Shiva Hazratpour gholgha,1,*



The evaluation of human sperm morphology is a controversial aspect of the semen analysis for the determination of male’s fertility potential. abnormality of sperm morphology can be in head, neck and tail. it may be due to several reasons, one of this reason is mutation in cytoskeletal proteins encoded genes like actin and actin related protein genes. the aim of this study is to evaluate genetic alteration in arpt1, a gene which encoded actin related protein one specific in testis and may serve functions other than nucleation of actin filaments. the localization of arpt1 is in the calyx (the calyx is a large cytoskeletal component of the perinuclear theca of the mammalian sperm head).


In this case-control study blood samples were retrieved from 50 infertile men with abnormal morphology of sperm head include giant head sperm and pin head sperm and globo head sperm as case group and 50 fertile men with normal spermogram as control group. dna extracted from the blood samples, after that the only exon of arpt1 gene amplified in both case and control groups by pcr using specific primers. finally, the pcr products were sequenced in order to evaluate any alteration.


After pcr-sequencing, 2 variations have been observed in 2 cases. first variant was 1075c>t in an infertile man with %90 pin sperm head, this variant changes arginine to tryptophan in loop of arpt1 protein in 95 position. second variant was 1321g>a in an infertile man with %82 amorph sperm head and changes alanine to threonine in loop of arpt1 protein in 177 position.


From obtained results, it could be concluded that genetic alterations of this gene most likely can be effective in sperm head morphology. the evaluation of arpt2 gene is recommended in order to find alterations related to sperm morphology.


male infertility