T4216C mutation in NADH dehydrogenase I gene is associated with recurrent pregnancy loss

Abstract

Several genetic factors are involved with recurrent pregnancy loss (RPL). However, few attempts have been made to associate mitochondrial DNA (mtDNA) variations with RPL. Therefore, we investigated the possible effect of the T4216C mutation in the mitochondrial NADH dehydrogenase I (ND1) gene of 33 women with RPL and 100 controls, using polymerase chain reaction amplification and DNA sequence analysis. Our results showed a statistically significant association of the T4216C mutation (p < 0.05) between patients and controls, which are 30% and 11%, respectively. In conclusion, more research is essentially needed to understand the effect and role of the T4216C mutation in the progress of RPL, which may vary among individuals and different ethnic groups.

Keywords::

• Recurrent pregnancy loss (RPL)
• mitochondrial NADH dehydrogenase I (ND1)
• T4216C mutation

Acknowledgements

We would like to thank all Iranian patients with RPL from Medical Genetics Department, Special Medical Center, Tehran, Iran.

Declaration of interest: This work was supported by a grant from Dr M. Houshmand, to whom we give our grateful appreciation. The authors declare no conflict of interest. The authors alone are responsible for doing the research and writing the paper.