The Influence of Mitophagy and Apoptosis on The Embryo Development in Kartagener and Globozoospermia Cases

In this case study, we aimed to detect the gene expression profiles in two rare male infertility syndromes. The first syndrome is Globozoospermia which occurs via detecting acrosomal-free spherical sperm. Another rare and genetic syndrome is known as primary ciliary dyskinesia, Kartagener Syndrome which is caused by mutations that affect the motility of cilia. We aimed to identify the role of apoptosis and mitophagy genetic markers in embryonic waste culture medium of Globozoospermia and Kartagener Syndrome cases. Waste embryo culture medium samples of Globoospermia and Kartagener patients were collected. Total RNAs were isolated and MFN1, MFN2, Cyt C and p53 gene expressions were determined by using RT-PCR. KS sample with developing embryos have the lowest apoptotic pathway activity compared to both arrest KS and NR samples (p<0.001). Although there is a genetic component to about half of cases of infertility, many genetic reasons of infertility in humans are still unknown. Over the past two decades, the discovery of gene variants related with infertility in patients has been made easier by the development of high-throughput sequencing tools.