Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women

Vanniarajan, A.; Govindaraj, P.; Carlus, S.J.; Aruna, M.; Aruna, P.; Kumar, A.; Jayakar, R.I.; Lionel, A.C.; Gupta, S.; Rao, L.; Gupta, N.J.; Chakravarthy, B.; Deenadayal, M.; Selvaraj, K.; Andal, S.; Reddy, B.M.; Singh, L.; Thangaraj, K.; Vanniarajan, A; Govindaraj, P; Carlus, S.J; Aruna, M; Aruna, P; Kumar, A; Jayakar, R.I; Lionel, A.C; Gupta, S; Rao, L; Gupta, N.J; Chakravarthy, B; Deenadayal, M; Selvaraj, K; Andal, S; Reddy, B.M; Singh, L; Thangaraj, K

doi:10.1016/j.mito.2011.01.002

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Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women

Vanniarajan, A.; Govindaraj, P.; Carlus, S.J.; Aruna, M.; Aruna, P.; Kumar, A.; Jayakar, R.I.; Lionel, A.C.; Gupta, S.; Rao, L.; Gupta, N.J.; Chakravarthy, B.; Deenadayal, M.; Selvaraj, K.; Andal, S.; Reddy, B.M.; Singh, L.; Thangaraj, K.

Mitochondrion 11(3): 450-456

2011

ISSN/ISBN: 1872-8278

PMID: 21292039

DOI: 10.1016/j.mito.2011.01.002

Document Number: 220816

Several genetic factors have been found to be associated with recurrent pregnancy loss (RPL). However, not many attempts have been made to associate the mitochondrial DNA (mtDNA) variations with RPL. Therefore, we have analyzed the complete mtDNA of 100 women with RPL and 12 aborted fetal tissues. Our analysis revealed a total of 681 variations, most of which were in NADH Dehydrogenase (ND) genes that encode mitochondrial enzyme Complex I. Presence of T4216C variation (ND1 gene) in 9% of the RPL women and several pathogenic, and novel mutations suggest the role of mtDNA variations in RPL.