No association between MTHFR A1298C and MTRR A66G polymorphisms, and MS in an Australian cohort

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Title No association between MTHFR A1298C and MTRR A66G polymorphisms, and MS in an Australian cohort
Author Szvetko, Attila Laszlo; Fowdar, Javed; Nelson, Jessica; Colson, Natalie Jane; Tajouri, Lotfi; Csurhes, P.A.; Pender, M.P.; Griffiths, Lyn
Journal Name Journal of the Neurological Sciences
Editor Journal of the Neurological Sciences
Year Published 2007
Place of publication Journal of the Neurological Sciences
Publisher Journal of the Neurological Sciences
Abstract Multiple sclerosis (MS) is a complex neurological disease that affects the central nervous system (CNS) resulting in debilitating neuropathology. Pathogenesis is primarily defined by CNS inflammation and demyelination of nerve axons. Methionine synthase reductase (MTRR) is an enzyme that catalyzes the remethylation of homocysteine (Hcy) to methionine via cobalamin and folate dependant reactions. Cobalamin acts as an intermediate methyl carrier between methylenetetrahydrofolate reductase (MTHFR) and Hcy. MTRR plays a critical role in maintaining cobalamin in an active form and is consequently an important determinant of total plasma Hcy (pHcy) concentrations. Elevated intracellular pHcy levels have been suggested to play a role in CNS dysfunction, neurodegenerative, and cerebrovascular diseases. Our investigation entailed the genotyping of a cohort of 140 cases and matched controls for MTRR and MTHFR, by restriction length polymorphism (RFLP) techniques. Two polymorphisms: MTRR A66G and MTHFR A1298C were investigated in an Australian age and gender matched case-control study. No significant allelic frequency difference was observed between cases and controls at the alpha=0.05 level (MTRR chi(2)=0.005, P=0.95, MTHFR chi(2)=1.15, P=0.28). Our preliminary findings suggest no association between the MTRR A66G and MTHFR A1298C polymorphisms and MS.
Peer Reviewed Yes
Published Yes
Publisher URI http://www.elsevier.com/wps/find/journaldescription.cws_home/506078/description#description
Alternative URI http://dx.doi.org/10.1016/j.jns.2006.10.006
Volume 252
Issue Number 1
Page from 49
Page to 52
ISSN 0022-510X
Date Accessioned 2007-01-08
Language en_AU
Research Centre Griffith Health Institute
Faculty Griffith Health Faculty
Subject PRE2009-Neurogenetics
URI http://hdl.handle.net/10072/17777
Publication Type Journal Articles (Refereed Article)
Publication Type Code c1

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