Mitochondrial D-loop Variations in Infertile Women Undergoing in Vitro Fertilization-Embryo Transfer

To show a high frequency of human mitochondrial DNA (mtDNA) D-loop variations present in infertile women undergoing in vitro fertilization-embryo transfer (IVF-ET) and the variation's potential relevance as a predictive marker in the IVF-ET.

The entire mtDNA D-loop region was amplified in 3 overlapping polymerase chain reaction fragments, and the variations were evaluated through direct DNA sequencing methods in 156 infertile women undergoing IVF-ET.

A total of 48 variations were found at 47 positions in the D-loop of all patients. The incidence of variations (particularly 16191 C --> T [p = 0.0321, 16519 T --> C [p = 0.0431, 326 A --> G [p = 0.0031, and 432 A --> C [p = 0.042) was significantly higher in patients with top quality embryo rate 41.84% (p = .0.004). However, variations were not significantly associated with the fertilization rate (p = 0.846), cleavage rate (p = 1.000), pregnancy rate (p = 0.839), implantation rate (p = 0.911), or miscarriage rate (p = 0.658).

Our data suggest that the increase in mtDNA variations in the peripheral blood from infertile women could have a predictive value for the outcomes of infertile women undergoing IVF-ET.