alexa Evaluation of C677T Polymorphism of the Methylenetetrah
ISSN: 2329-6895

Journal of Neurological Disorders
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Research Article

Evaluation of C677T Polymorphism of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in various Neurological Disorders

Sireesha Divyakolu1, Yadavalli Tejaswini1, Winnie Thomas1, Sravya Thumoju1, Vemula Ramana Sreekanth2, Mohan Vasavi1, Vallomkonda Ramesh OmSai3, Vallomkonda Nagaratna3, Qurratulain Hasan1,4and Yog Raj Ahuja1*
1Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, Khairatabad, Hyderabad, India
2Department of Neurology, Apollo Hospital, Jubilee Hills, Hyderabad, India
3Department of Medical Sciences, National Institute of Mentally Handicapped (NIMH), Bowenpally, Hyderabad, India
4Department of Genetics and Molecular Medicine, Kamineni Hospital, LB Nagar, Hyderabad, India
Corresponding Author : Ahuja YR
Department of Genetics and Molecular Medicine
Vasavi Medical and Research Centre
6-1-91, Khairatabad, Hyderabad-500004, India
Tel: 23210251, 23323235
E-mail: [email protected]
Received November 05, 2013; Accepted December 03, 2013; Published December 05, 2013
Citation: Divyakolu S, Tejaswini Y, Thomas W, Thumoju S, et al. (2013) Evaluation of C677T Polymorphism of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in various Neurological Disorders. J Neurol Disord 2:142. doi: 10.4172/2329-6895.1000142
Copyright: © 2013 Divyakolu S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Background: Genetic risk factors play an important role in neurological disorders. In this case-control study, we examined the C677T polymorphism (rs1801133) in the Methylenetetrahydrofolate reductase (MTHFR) gene and its association with three neurodegenerative disorders: The late onset pathology, Alzheimer disease and two early onset ones, Autism and Down syndrome. New evidence suggests that autism may be associated with varied behavioural responses to folate therapy and metabolic anomalies, including those in folate metabolism, that contribute to hypomethylation of DNA. We hypothesis that, MTHFR C677T mutation may be the underlying common risk factor in various neurological disorders leading to impaired one carbon metabolism resulting in similar and severe neuropsychological symptoms. Hence our objective was to evaluate MTHFR C677T polymorphism in different Neurological disorders and compare it with age-matched healthy controls.

Method: This case-control study was carried out on 200 samples which included 100 patients with different neurological disorders and 100 healthy individuals without any neurological problems taken as the control group. MTHFR polymorphism was assessed by PCR-RFLP.

Results: Results indicated that the C677T MTHFR polymorphism was not significantly different between controls of younger and older age groups. Among the three neurological disorders studied the T allele was associated with autism (TT+CT vs. CC; OR=4.472, 95% CI: 1.605-12.799, p<0.002), but not with the other two conditions.

Conclusion: In conclusion, despite the smaller sample size, the C677T polymorphism of MTHFR plays a role in some complex neurodevelopmental disorders and not in others.

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