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

Attila L Szvetko, J. Fowdar, J. Nelson, N. Colson, L. Tajouri, Peter A Csurhes, Michael P. Pender, Lyn R. Griffiths

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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 (Hey) 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 Hey (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 2 (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. (c) 2006 Elsevier B.V. All rights reserved.

Original languageEnglish
Pages (from-to)49-52
Number of pages4
JournalJournal of the Neurological Sciences
Volume252
Issue number1
DOIs
Publication statusPublished - 15 Jan 2007
Externally publishedYes

Cite this

Szvetko, Attila L ; Fowdar, J. ; Nelson, J. ; Colson, N. ; Tajouri, L. ; Csurhes, Peter A ; Pender, Michael P. ; Griffiths, Lyn R. / No association between MTHFR A1298C and MTRR A66G polymorphisms, and MS in an Australian cohort. In: Journal of the Neurological Sciences. 2007 ; Vol. 252, No. 1. pp. 49-52.
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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 (Hey) 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 Hey (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 2 (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. (c) 2006 Elsevier B.V. All rights reserved.",
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Szvetko, AL, Fowdar, J, Nelson, J, Colson, N, Tajouri, L, Csurhes, PA, Pender, MP & Griffiths, LR 2007, 'No association between MTHFR A1298C and MTRR A66G polymorphisms, and MS in an Australian cohort' Journal of the Neurological Sciences, vol. 252, no. 1, pp. 49-52. https://doi.org/10.1016/j.jns.2006.10.006

No association between MTHFR A1298C and MTRR A66G polymorphisms, and MS in an Australian cohort. / Szvetko, Attila L; Fowdar, J.; Nelson, J.; Colson, N.; Tajouri, L.; Csurhes, Peter A; Pender, Michael P.; Griffiths, Lyn R.

In: Journal of the Neurological Sciences, Vol. 252, No. 1, 15.01.2007, p. 49-52.

Research output: Contribution to journalArticleResearchpeer-review

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T1 - No association between MTHFR A1298C and MTRR A66G polymorphisms, and MS in an Australian cohort

AU - Szvetko, Attila L

AU - Fowdar, J.

AU - Nelson, J.

AU - Colson, N.

AU - Tajouri, L.

AU - Csurhes, Peter A

AU - Pender, Michael P.

AU - Griffiths, Lyn R.

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N2 - 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 (Hey) 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 Hey (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 2 (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. (c) 2006 Elsevier B.V. All rights reserved.

AB - 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 (Hey) 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 Hey (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 2 (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. (c) 2006 Elsevier B.V. All rights reserved.

U2 - 10.1016/j.jns.2006.10.006

DO - 10.1016/j.jns.2006.10.006

M3 - Article

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SP - 49

EP - 52

JO - World neurology

JF - World neurology

SN - 0022-510X

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ER -