Disruptions of mitochondrial DNA (mtDNA) may affect male reproductive function. The aim of this study was to investigate the association of three deletions (4977, 7345 and 7599 bp) and two-point mutations (A73G and A3243G) of mitochondrial DNA with male infertility in an Iranian population. In a case-control study, we collected semen samples of 60 infertile men and 60 healthy controls. Detection of the mtDNA deletions and point mutations were performed by long range PCR and PCR-RFLP method, respectively. Our data revealed that 4977 and 7599 bp deletions are associated with male infertility. But, there was no association between mentioned point mutations and male infertility. Our findings suggested that 4977 and 7599 bp deletions of mtDNA may be genetic risk factors for male infertility. However, it is a preliminary study and is presenting data for future comprehensive study for making a clinical conclusion that these deletions are biomarkers for susceptibility to male infertility.
Keywords: DNA deletion; Male infertility; mtDNA; point mutation.