Studying Molecular genetics of type-2 diabetes

Project title Studying Molecular genetics of type 2 diabetes Aim Major aim of the present research is to Investigate the functional role of novel gene mutants or variants associated with Maturity-onset diabetes of the young (MODY) in south Asian Indians Objective The main objective of this proposal is to explore the relationship between Asian Indian gene variation in transcription factors HNF 1A and impaired beta cell dysfunction and whole body insulin secretion. R&D challenges in Current research Lik ely hood of finding a new novel genetic marker for diabetes in Asian Indians is very urgent need and finding the causative defect of gene variants and their associations with MODY is still poorly understood. Hence improved knowledge and treatment of MODY in south Asian Indians is required. Future Applications of the project findings This study entails application of gene expression and quantification techniques such as the following-Identification of genetic variants from type 2 diabetes and MODY and t esting for co- segregation of these variants in a family if available; Studying the functional properties of these variations depending on their position in the gene, using the following strategies: a) Cloning, Site-directed mutagenesis and mutant constr uction for expression analysis, b) DNA. Protein binding studies(EMSA), c) Assessing the transactivaton potential of the gene variant by luciferase assays; d) Investigation of sub-cellular localization of normal and altered proteins in certain instances, i n order to find whether the variant could alters the nuclear localization; e) Pharmaco genomics analysis and f) Correlating the genotype - phenotype effect