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

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

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 ca...

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Bibliographic Details
Published in:Journal of the neurological sciences Vol. 252; no. 1; pp. 49 - 52
Main Authors: Szvetko, A.L, Fowdar, J, Nelson, J, Colson, N, Tajouri, L, Csurhes, P.A, Pender, M.P, Griffiths, L.R
Format: Journal Article
Language:English
Published: Shannon Elsevier B.V 15-01-2007
Elsevier Science
Subjects:
Australia - epidemiology
Biological and medical sciences
Case-Control Studies
Chi-Square Distribution
Cohort Studies
Female
Ferredoxin-NADP Reductase - genetics
Gene association
Gene Frequency
Genotype
Homocysteine
Homocysteine - blood
Humans
Male
Medical sciences
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
MTHFR
MTRR
Multiple sclerosis
Multiple Sclerosis - blood
Multiple Sclerosis - epidemiology
Multiple Sclerosis - genetics
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurology
Polymorphism, Genetic
Australia
MTHFR
Multiple sclerosis
MTRR
Homocysteine
Gene association
Nervous system diseases
Homocystein
Central nervous system disease
Inflammatory disease
Polymorphism
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Summary: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 α = 0.05 level (MTRR χ2 = 0.005, P = 0.95, MTHFR χ2 = 1.15, P = 0.28). Our preliminary findings suggest no association between the MTRR A66G and MTHFR A1298C polymorphisms and MS.
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ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2006.10.006