title: Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women.
abstract: 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.
authors.affiliation: Centre for Cellular and Molecular Biology (CSIR), Hyderabad, India.
authors.forename: Ayyasamy
authors.initials: A
authors.lastname: Vanniarajan
authors.forename: Periyasamy
authors.initials: P
authors.lastname: Govindaraj
authors.forename: S Justin
authors.initials: SJ
authors.lastname: Carlus
authors.forename: Meka
authors.initials: M
authors.lastname: Aruna
authors.forename: P
authors.initials: P
authors.lastname: Aruna
authors.forename: Ajay
authors.initials: A
authors.lastname: Kumar
authors.forename: Richard Issac
authors.initials: RI
authors.lastname: Jayakar
authors.forename: Anath C
authors.initials: AC
authors.lastname: Lionel
authors.forename: Sandeep
authors.initials: S
authors.lastname: Gupta
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Rao
authors.forename: Nalini J
authors.initials: NJ
authors.lastname: Gupta
authors.forename: Baidyanath
authors.initials: B
authors.lastname: Chakravarthy
authors.forename: Mamatha
authors.initials: M
authors.lastname: Deenadayal
authors.forename: Kamala
authors.initials: K
authors.lastname: Selvaraj
authors.forename: Sadaranga
authors.initials: S
authors.lastname: Andal
authors.forename: B Mohan
authors.initials: BM
authors.lastname: Reddy
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007194:India; D024101:Mitochondrial Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D011247:Pregnancy
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D042967:Electron Transport Complex I