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.
