AMT Engbersen

DG Franken

DS Rosenblatt

GHJ Boers

J Selhub

JF Davies

JJ Genest Jr.

MJ Stampfer

P Goyette

R Clarke

RM Horton

S-S Kang

SC Daubner

SS Kang

Frosst, P.

Blom, H.J.

Milos, R.

Goyette, P.

Sheppard, C.A.

Matthews, R.G.

Boers, G.H.J.

Heijer, M. den

Kluijtmans, L.A.J.

Heuvel, L.P.W.J. van den

Rozen, R.

NARCIS 

A candidate genetic risk factor for vascular disease   : a common mutation in methylenetetrahydrofolate reductase

Meyer, M. den

Rosen, R.

Radboud Repository

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolase reductase.

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Hyperhomocysteinaemia has been identified as a risk factor for cerebrovascular, peripheral vascular, and coronary heart disease. Elevated levels of plasma homocysteine can result from genetic or nutrient-related disturbances in the trans-sulphuration or re-methylation pathways for homocysteine metabolism. 5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the predominant circulatory form of folate and carbon donor for the re-methylation of homocysteine to methionine. Reduced MTHFR activity with a thermolabile enzyme has been reported in patients with coronary and peripheral artery diseases. We have identified a common mutation in MTHFR which alters a highly-conserved amino acid; the substitution occurs at a frequency of approximately 38% of unselected chromosomes. The mutation in the heterozygous or homozygous state correlates with reduced enzyme activity and increased thermolability in lymphocyte extracts; in vitro expression of a mutagenized cDNA containing the mutation confirms its effect on thermolability of MTHFR. Finally, individuals homozygous for the mutation have significantly elevated plasma homocysteine levels. This mutation in MTHFR may represent an important genetic risk factor in vascular disease

Blom, H. J.

Sheppard, Christal A.

Matthews, R. G.

Boers, G. J.H.

den Heijer, M.

Kluijtmans, L. A.J.

van den Heuvel, L. P.

Rozen, Rima

UNL | Libraries

English

A candidate genetic risk factor for vascular disease:
A common mutation in methylenetetrahydrofolate reductase

Identification of a candidate genetic risk factor for vascular disease: A common mutation at the methylenetetrahydrofolate reductase locus

DigitalCommons@University of Nebraska

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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolase reductase.

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NARCIS

Radboud Repository

Radboud Repository

UNL | Libraries

NARCIS

Radboud Repository

NARCIS

NARCIS

DigitalCommons@University of Nebraska

Crossref