P-202: Reduced Expression of JMJD1A Histone Demethylase Gene in Testis Tissues of Infertile Men Referred to Royan Institute

Background: Epigenetic modifications are involved in different cellular processes through regulating chromatin dynamics. histone methylation is an important modification that can be dynamically regulated by histone methyltransferase and histone demethylase enzymes. JMJD1A (also known as JHDM2A and KDM3A) is a histone demethylase specific for H3K9me2/me1. JMJD1A is a key epigenetic regulator that highly expresses in the testis and has an important role in male germ cell development. It activates expression of genes involved in sperm chromatin condensation and maturation by removing the repressive H3K9me2/me1 modification from their promoters.This study aimed to evaluate the expression profile of JMJD1A gene in testis tissues of infertile men. Materials and Methods: Ethical approval and informed patient consent was gained for the use of tissue samples. Testicular biopsies were collected from 20 infertile men referred to Royan Institute and underwent testicular sperm extraction (TESE). Through pathological and spermogram analyses, these samples distributed into 4 groups: hypospermatogenesis (positive control), sever oligoasthenoteratozoospermia, complete maturation arrest at spermatid level and sertoli cell only syndrome (negative control). Total RNA was extraced from the tissue samples. After synthesis of first-strand cDNA, quantitative real-time PCR was performed using designed JMJD1A primer pairs. Results: qRT-PCR analysis significantly revealed lower expression of JMJD1A in all 3 sample groups with spermatogenesis defect in comparison to positive control. Conclusion: These results indicate that JMJD1A deficiency can cause to defective spermiogenesis, and JMJD1A demethylase may be considered as an epigenetic biomarker in male infertility.