Screening of mitochondrial mutations and insertion-deletion polymorphism in gestational diabetes mellitus in the Asian Indian population

Imran Ali Khan, Noor Ahmad Shaik, Nagarjuna Pasupuleti, Srinivas Chava, Parveen Jahan, Qurratulain Hasan, Pragna Rao

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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 tRNALeu(UUR) causes mitochondrial encephalopathy myopathy, lactic acidosis, and stroke-like episodes (MELAS), while the A8344G mutation in tRNALys 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.

Original languageEnglish
Pages (from-to)243-248
Number of pages6
JournalSaudi Journal of Biological Sciences
Issue number3
Publication statusPublished - 2015


All Science Journal Classification (ASJC) codes

  • Agricultural and Biological Sciences(all)

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