Mutations in mitochondrial DNA were implicated to be associated with male infertility. Due to its high mutation rate, mtDNA defects may occur at any nucleotide of its 16,569 bp sequence. In this study, we analyzed a recent paper concerning the role of mtDNA variations in asthenospermic infertile men, we found that mtDNA mutation was a frequent event in male infertility. However, some polymorphisms in gene encoding mt-tRNAs were mislabelled as "pathogenic mutations". We also discussed the potential pitfalls and mistakes in mitochondrial medicine studies.
Keywords: Male infertility; mtDNA; mutation.