Document Type : Research Article


Department of Zoology, Osmania University, Hyderabad, India


Energy is required for life on Earth, and it is provided by the small organelles of cells called mitochondria, also referred to as the cell's powerhouses. Mitochondrial DNA (mtDNA), which is grouped into several human mtDNA haplogroups, is frequently employed in population genetics to identify individuals or communities based on mutation sites found by comparison with the reference sequence (rCRS). Previous studies in various populations have connected particular mtDNA haplogroups and polymorphisms to a range of human disorders, including Type 2 Diabetes Mellitus (T2DM). In addition, a number of mitochondrial DNA polymorphisms have been connected to elevated reactive oxygen species (ROS) generation and an elevated risk of a number of malignancies, including type 2 diabetes mellitus (T2DM), in the Indian patients.
       As a result, we conducted a high-resolution assessment of the mtDNA hypervariable area in our study to trace distinct mtDNA haplogroup connections with type 2 Diabetes Mellitus (T2DM) in south Indian communities. We discovered that mtDNA Haplogroup M was present in 60% of type 2 Diabetes Mellitus (T2DM) patients and about 55% of the control samples examined. Haplogroup M is the most frequent mtDNA cluster observed in south Indian people. We further segmented macro haplogroup M and revealed sub haplogroups (M8, M7, M6, M5, M3, and M2) with variable frequencies. Patients with Type 2 Diabetes Mellitus (T2DM) and haplogroup M5 were significantly associated, according to our research (p = 0.026). Haplogroup M5 was discovered in our study in 3.3 percent of control populations and 13% of south Indian T2DM patients. These results imply that Type 2 Diabetes Mellitus is more likely to occur in haplogroup M5 individuals.

Graphical Abstract

Human Mitochondrial DNA Haplogroup M5 is Associated with Type 2 Diabetes Mellitus in South Indian Population: A High-Resolution Case Control Study‌ using Next Generation Sequencing


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