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Telomere length and mitochondrial copy number as potential biomarkers for male infertility in Iraqi men

Faeq Kadhim, M.; El Arbi, M.; Thamer Samawi, F.; Gargouri, A.

2025-05-11 genetic and genomic medicine
10.1101/2025.05.11.25327013 medRxiv
Show abstract

Male infertility is one of the major health and social problems in Iraq. It can be caused by several factors, such as acquired, environmental, and genetic factors. Awareness of the crucial role of telomeres and mitochondria in sperm production and fertility has increased in recent years. This study aims to evaluate the relationship between mitochondrial DNA (mtDNA) copy number and telomere length in sperm and the degree of infertility in Iraqi men. Of the 200 study participants, 50 were healthy controls and 150 were infertile. Sperm count, motility, and morphology were assessed by collecting and analyzing semen samples. The mitochondrial gene ND1 and the nuclear reference gene GAPDH were analyzed by quantitative PCR (qPCR) to determine the mtDNA copy number, while another qPCR analysis was used to determine telomere length. The mtDNA copy number of infertile men was significantly higher than that of healthy controls, with a p-value of 0.001. In addition, sperm from the patient group showed a significant reduction in telomere length (p = 0.001). According to the study results, male infertility in Iraqi men is associated with a higher mtDNA copy number and shorter telomere length. DNA damage or disruption of the mitochondrial energy production pathway could be the cause of this association. These results highlight the importance of conducting further investigations to validate these findings and understand the underlying biological pathways, as well as to open new research perspectives in the field of male infertility. HighlightsO_LIInfertile men have altered mtDNA copy number compared to healthy ones. C_LIO_LITelomere length is a biomarker of aging and reproductive health. C_LIO_LIOxidative stress and impaired spermatogenesis are thought to contribute to telomere shortening. C_LIO_LIShorter telomere length is associated with decreased sperm quality and fertility. C_LI

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