title: Screening of mitochondrial mutations and insertion-deletion polymorphism in gestational diabetes mellitus in the Asian Indian population.
abstract: In this study we scrutinized the association between the A8344G/A3243G mutations and a 9-bp deletion polymorphism with gestational diabetes mellitus (GDM) in an Asian Indian population. The A3243G mutation in the mitochondrial tRNA(Leu(UUR)) causes mitochondrial encephalopathy myopathy, lactic acidosis, and stroke-like episodes (MELAS), while the A8344G mutation in tRNA(Lys) causes myoclonus epilepsy with ragged red fibers (MERRF). We screened 140 pregnant women diagnosed with GDM and 140 non-GDM participants for these mutations by PCR-RFLP analysis. Both A3243G and A8344G were associated with GDM (A3243: OR-3.667, 95% CI = 1.001-13.43, p = 0.03; A8344G: OR-11.00, 95% CI = 0.6026-200.8, p = 0.04). Mitochondrial DNA mutations contribute to the development of GDM. Our results conclude that mitochondrial mutations are associated with the GDM women in our population. Thus it is important to screen other mitochondrial mutations in the GDM women.
authors.affiliation: Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad 500068, India ; Department of Genetics, Vasavi Medical and Research Centre, Lakdikapool, Hyderabad 500004, India ; Department of Genetics and Biotechnology, Osmania University, Tarnaka, Hyderabad 500007, India.
authors.forename: Imran Ali
authors.initials: IA
authors.lastname: Khan
authors.affiliation: Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Noor Ahmad
authors.initials: NA
authors.lastname: Shaik
authors.affiliation: Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad 500068, India.
authors.forename: Nagarjuna
authors.initials: N
authors.lastname: Pasupuleti
authors.affiliation: Department of Genetics, Vasavi Medical and Research Centre, Lakdikapool, Hyderabad 500004, India.
authors.forename: Srinivas
authors.initials: S
authors.lastname: Chava
authors.affiliation: Department of Genetics and Biotechnology, Osmania University, Tarnaka, Hyderabad 500007, India.
authors.forename: Parveen
authors.initials: P
authors.lastname: Jahan
authors.affiliation: Department of Genetics and Molecular Medicine, Kamineni Hospitals, LB Nagar, Hyderabad 500068, India ; Department of Genetics, Vasavi Medical and Research Centre, Lakdikapool, Hyderabad 500004, India.
authors.forename: Qurratulain
authors.initials: Q
authors.lastname: Hasan
authors.affiliation: Department of Biochemistry, Kasturba Medical College, Manipal University, Manipal 576104, Karnataka, India.
authors.forename: Pragna
authors.initials: P
authors.lastname: Rao
keywords: A3243G; A8344G; GDM; MELAS; MERRF; Mitochondria