EVALUATION OF THE ASSOCIATION OF rs8052394 OF METALOTHIONEIN-1A GENE WITH TYPE 2 DIABETES MELLITUS IN NEPALESE POPULATION
Journal Title: Indian Journal of Research in Pharmacy and Biotechnology - Year 2013, Vol 1, Issue 5
Abstract
Polymorphisms in metallothionein-1A gene associated with the risk of type 2 diabetes mellitus and its complications. Metallothioneine (MT) as a potent antioxidant can affect energy metabolism. The present study was undertaken to investigate the association between MT gene polymorphism and type 2 diabetes mellitus. Polymorphism in rs8052394 of Metallothioneine 1A gene at lys51Arg is the most prevalent mutation in T2DM. Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) has been found to be a reliable and effective tool to identify the specific gene alteration that is responsible for the development of T2DM and its complication. The aim of study was to identify the mutation in specific part of rs8052394 of MT1A gene (lys51Arg substitution) in diabetic population by PCR-RFLP technique. All together 62 diabetic samples were collected and DNA extraction was performed according to protocol of D.K. Lahari et al. Amplification of fragment with MT1A gene at 51th position of amino acid performed in a XP Thermocycler using primers Forward: 5’-ACTAAGTGTCCTCTGGGGCTG 3’ and Reverse: 5’-AATGGGTCACGGTTGTATGG 3’ of MT1A gene cleaved by pstI enzyme. The restriction fragments obtained were electrophoreses in a 2% agarose gel and were visualized using transilluminator. Mutation of MT1A gene was present in 40.32% of 62 patients, out of which 19.35%was of ≤50 yrs of age group. On comparing the mean age of two category of genotype (AA and AG/GG, correlation is statistically significant with p=0.044 (CI=95%).This is the first time that the mutation positions in MT1A gene Lys51Arg substitution have been studied in Nepalese population with Type II diabetic. Since Nepal is geographically located between two countries (India and China) with around 30% of world’s total diabetic cases, researches in this subject seems to be of a rationale work.
Authors and Affiliations
Surya Prasad Sharma, Bishal Khatiwada, Binita Dhakal, Uddhav Timilsina
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