A Review on Mitochondrial DNA Mutation and Male Infertility

Abstract

Almost half of cases of infertility, which is defined as the inability to conceive after a year of unprotected sexual activity, are caused by male factors. Infertility is still a global health concern. The mitochondria are one of the main biological contributors to energy metabolism, especially to sperm motility, which is necessary for fertilization. Important proteins involved in oxidative phosphorylation are encoded by mitochondrial DNA (mtDNA), and its deletions or mutations have been linked more and more to poor fertilization results, decreased sperm motility, and impaired spermatogenesis. The evidence that currently links male infertility to mtDNA abnormalities, including as point mutations and large-scale deletions in genes like ATPase 6/8, COX II, and ND subunits, is compiled in this article.  Particular attention is paid to the role that heteroplasmy and changes in mtDNA copy number play in aberrant sperm function. In conclusion, mtDNA anomalies are a major contributing factor to male infertility, highlighting their potential as diagnostic biomarkers and as attractive targets for fertility-restoring treatment approaches.