Mitochondrial DNA mutations in women with complete early embryo development arrest in vitro fertilized embryos

Objective To explore the specific mutations in mitochondrial genes of woman with unexplained complete early embryo development arrest in order to provide new data support for further elucidating the underlying mechanisms. Methods A case-control study was conducted on 46 infertile woman admitted to the Sixth Medical Center of Chinese PLA General Hospital from May 2021 to November 2022. All of them underwent peripheral blood whole exome sequencing and mitochondrial gene mutation detection. Ten patients with complete embryo development arrest were finally subjected and assigned into the study group, and another 15 patients with 3 or more transplantable embryos were enrolled into the control group. No chromosomal abnormalities were observed in both male and female partners of all above cases. Baseline clinical data and embryo development data were collected and compared between the 2 groups of patients. Mitochondrial gene mutation sites and their associated genes were analyzed in the 2 groups, and functional annotation was performed for the specific mutation sites/genes. Results There were 5 specific mitochondrial mutation sites identified in the study group: MT-16172 (T>C), MT-12882 (C>T), MT-12406 (G>A), MT-10609 (T>C), and MT-16129 (G>A). All these mutation sites are located on the genes of the mitochondrial respiratory chain complex and mitochondrial regulatory genes. Conclusion Five specific mitochondrial mutation sites [MT-16172(T>C)、MT-12882(C>T)、MT-12406(G>A)、MT-10609(T>C)、MT-16129(G>A)] may be related to unexplained early embryo development arrest.