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

Mitochondrial DNA. 2013 Oct;24(5):610-2. doi: 10.3109/19401736.2013.772150. Epub 2013 Mar 6.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Habitual / genetics*
  • Adolescent
  • Adult
  • Base Sequence
  • Case-Control Studies
  • DNA, Mitochondrial / genetics
  • Electron Transport Complex I / genetics*
  • Embryo Loss / genetics
  • Female
  • Humans
  • Iran
  • Mutation, Missense*
  • Polymorphism, Single Nucleotide
  • Pregnancy
  • Young Adult


  • DNA, Mitochondrial
  • Electron Transport Complex I