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Genetic investigation of methylenetetrahydrofolate reductase (MTHFR) and catechol-O-methyl transferase (COMT) in multiple sclerosis
Brain research bulletin (2006)
  • Lotti Tajouri, Griffith University
  • Virginie Martin, Griffith University
  • Claudia Gasparini, Griffith University
  • Micky Ovcaric, Griffith University
  • Rob Curtain, Griffith University
  • Rod A. Lea, Griffith University
  • Larisa M. Haupt, Griffith University
  • Peter Csurhes, University of Queensland
  • Michael P. Pender, University of Queensland
  • Lyn R. Griffiths, Griffith University
Abstract

Multiple sclerosis (MS) is a chronic neurological disease characterized by central nervous system (CNS) inflammation and demyelination. The C677T substitution variant in the methylenetetrahydrofolate reductase (MTHFR) gene has been associated with increased levels of circulating homocysteine and is a mild risk factor for vascular disease. Higher blood levels of homocysteine have also been reported in MS. Thus, the C677T mutation of the MTHFR gene may influence MS susceptibility. Noradrenaline, a neurotransmitter believed to play an immunosupressive role in neuroinflammatory disorders, is catabolized by catechol-O-methyl transferase (COMT). The COMT G158A substitution results in a three- to four-fold decreased activity of the COMT enzyme, which may influence CNS synaptic catecholamine breakdown and could also play a role in MS inflammation. We tested DNA from Australian MS patients and unaffected control subjects, matched for gender, age and ethnicity. Specifically, we genotyped the MTHFR C677T and the COMT G158A mutations. Genotype distributions showed that the homozygous mutant MTHFR genotype (T/T) and the COMT (H/H) genotype were slightly over-represented in the MS group (16% versus 11% and 24% versus 19%, respectively), but both variations failed to reach statistical significance (P = 0.15 and P = 0.32, respectively). Hence, results from the present study do not support a major role for either functional gene mutation in MS susceptibility.

Keywords
  • multiple sclerosis,
  • gene association,
  • MTHFR,
  • COMT,
  • polymorphism,
  • homocysteine
Publication Date
April 14, 2006
Publisher Statement
Interim status: Citation only.

Tajouri, L., Martin, V., Gasparini, C., Ovcaric, M., Curtain, R., Lea, R. A., Haupt, L. M., Csurhes, P., Pender, M. P., & Griffiths, L. R. (2006). Genetic investigation of methylenetetrahydrofolate reductase (MTHFR) and catechol-O-methyl transferase (COMT) in multiple sclerosis. Brain research bulletin, 69(3), 327-331.L

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© Copyright 2006 Elsevier Inc. All rights reserved.
Citation Information
Lotti Tajouri, Virginie Martin, Claudia Gasparini, Micky Ovcaric, et al.. "Genetic investigation of methylenetetrahydrofolate reductase (MTHFR) and catechol-O-methyl transferase (COMT) in multiple sclerosis" Brain research bulletin Vol. 69 Iss. 3 (2006)
Available at: http://works.bepress.com/lotti_tajouri/7/