Mitochondrial DNA variations in ova and blastocyst: Implications in assisted reproduction

Mitochondrial DNA (mtDNA) of oocyte is critical for its function, embryo quality and development. Analysis of complete mtDNA of 49 oocytes and 18 blastocysts from 67 females opting for IVF revealed 437 nucleotide variations. 40.29% samples had either disease associated or non-synonymous novel or pathogenic mutation in evolutionarily conserved regions. Samples with disease associated mtDNA mutations had low fertilization rate and poor embryo quality, however no difference in implantation or clinical pregnancy rate was observed. Screening mtDNA from oocyte/blastocyst is a simple, clinically reliable method for diagnostic evaluation of female infertility and may reduce risk of mtDNA disease transmission.

► About 40% of infertile women with poor ova/blastocyst possessed mtDNA mutations.
► Ova/blastocyst with mtDNA mutations showed low fertilization rate.
► mtDNA analysis of oocyte provides information on mitochondria related female infertility.
► Complete mtDNA analysis of oocyte is a simple and clinically relevant method.