Analysis of Mitochondrial DNA Mutation in Pakistani Women with Gestational Diabetes Mellitus

Ikram Khan, Aqsa Anum, Imran Khan, Murad Khan, Farman Ali, Sarmir Khan, Feroz Khan, Zhou Jianye, An Lizhe, Li Zhiqiang

International Journal of Biomedicine. 2022;12(3):438-443.
DOI: 10.21103/Article12(3)_OA17
Originally published September 5, 2022


Gestational diabetes mellitus (GDM), which is considered the most prevalent endocrine condition in pregnancy, has been linked to insulin resistance. Several traditional risk factors for GDM have been confirmed, including lifestyle and environmental factors, while recent studies have focused on the genetic factor, such as mitochondrial DNA (mtDNA) mutation and its association with GDM. Previous research has found a relationship between mutations in the tRNALys and tRNALeu(UUR) genes and diverse types of diabetes. However, the analysis of mutations in the mitochondrial tRNALeu(UUR) gene and its relationship with GDM patients in Pakistani women is not well investigated. The goal of this study was to investigate whether there is a relationship between the A3243G tRNALeu(UUR) gene mutation and GDM in Pakistani women. We selected 20 GDM pregnant women for this investigation, and DNA was extracted from their saliva. The mitochondrial tRNALeu(UUR) gene was amplified using PCR with specified primers, and 10 samples from different families were sequenced. The present study did not find the A3243G tRNALeu(UUR) mutation in Pakistani GDM women. Further studies are needed for confirmation.

gestational diabetes mellitus • mitochondria • tRNALeu(UUR) gene • mutation • PCR
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Received July 1, 2022.
Accepted July 30, 2022.
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