Investigation of the relationship between embryo ploidy, nuclear mitochondrial mismatch and embryo morphology

Abstract

Introduction: Chromosomal aneuploidies are a major cause of early reproductive losses and embryonic implantation failure. In addition to chromosomal abnormalities, poor preimplantation embryo development can be caused by maternal factors which include mitochondrial function. Proteins required for mitochondrial function are encoded by both mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA) necessitating the coordination between the two genomes. It has been proposed that mitochondrial-nuclear mismatch may cause embryonic cell death. Changes in ATP synthesis and metabolic reactions in the mitochondrial electron transport chain (ETC) have been linked to female infertility. This study explores mitochondrial haplogroups and nuclear DNA haplotypes of 53 nuclear encoded genes involved in mitochondrial function, by assessing aneuploidy status and preimplantation embryo development.