A study of ATPase gene variants of mitochondrial DNA in patients with Type 2 diabetes mellitus

Introduction and Aim: Diabetes mellitus is a complex disease that major global health problem. It defined as chronic metabolic characterized by high blood glucose levels. risk has been linked to genetic variations within mitochondrial DNA. The current study sought identify compare variation (mutations) in ATPase genes diabetic patients healthy individuals. Materials Methods: This included 100 individuals (50 T2DM 50 volunteers). Peripheral samples were collected from each individual DNA extracted. mtATPase amplified using specific primers polymerase chain reaction. products sequenced, the sequences obtained analyzed for nucleotide changes. Results: gene sequence analysis revealed nine changes, three of which (A9039G, G9092A, G9100T) are classified polymorphisms human genome database. Furthermore, we presented first description mutations such (A8586G, C8637T, G8813A, A8953G, C8981T T9024G). A9039G mutation changed amino acid isoleucine glycine, G9100T serine isoleucine, C8981G threonine isoleucine. Most found predict haplogroup H2a (H2a2), addition having H1c (H1c3) L1c(L1c2). presence may be an inheritable factor type 2 diabetes pathogenesis. Conclusion: Variants one factors associated with diabetes. Hence, documenting these clinically important possibility diagnosing diabetes, well likelihood could pathogenic.