Genotyping and Expression Profiling of Methylenetetrahydrofolate Reductase (C677T) in Type 2 Diabetes Mellitus and Alzheimer’s Disease

Abstract

Type 2 diabetes mellitus, considered as a multifactorial metabolic disorder where failure of β cell and resistance of peripheral insulin takes place. It is one of the most prevalent diseases in the world. It is associated with other major macrovascular as well as microvascular complications affecting liver, kidney, adipose tissues, heart and even brain. On long-term basis, it causes neurodegenerative disorders including Alzheimer’ Disease (AD). Many genetic as well as epigenetic and environmental risk factors are involved in T2DM leading towards the condition of AD which comes as a dementia form and considered by neural loss and amyloid beta plaques. One of the genetic risk factors is methylenetetrahydrofolate reductase (MTHFR) which has a common polymorphism C677T that is responsible for the onset of both the diseases i.e. T2DM and AD. This present study aims to evaluate the expression level of MTHFR gene in the study groups of T2DM and AD compared with control group. For this, real time PCR was carried out on all the samples and their cycle threshold (Ct) values have been analysed. This study has reinforced the hypothesis that MTHFR has elevated expression level in T2DM and AD than control group. Although expression of MTHFR in AD was not significantly high but still it shows increased expression than control. Therefore, it concludes that MTHFR polymorphism C677T, a significant genetic risk factor for incidence of both disorders i.e. T2DM and AD. This study also predicts that it further needs to be extended on greater sample size and various ethnic groups to evaluate more about such association study. Such association study will help in future to find out the shared risk factors so that better therapeutic approaches can be designed to target both the ailments.