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01-06-2004 | Original Article

Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity

Authors: Hidetaka Yano, Kazuhiro Nakaso, Kenichi Yasui, Yosuke Wakutani, Hiroyuki Nakayasu, Hisanori Kowa, Yoshiki Adachi, Kenji Nakashima

Published in: Neurogenetics | Issue 2/2004

Abstract

Methylenetetrahydrofolate reductase (MTHFR) is the only route for the synthesis of 5-methyltetrahydrofolate, which is utilized to convert homocysteine to methionine. In this study, we measured the enzyme activity of a mutant MTHFR that was detected in a patient with hyperhomocysteinemia. The 428C>T mutation in exon 2 of the MTHFR gene is a novel mutation, while the [458G>T+459C>T] mutation in exon 2 is a previously reported mutation. The activity of mutant enzymes containing the 428C>T, [458G>T+459C>T] and 677C>T mutations was 12.7±4.7%, 48.1±18.8%, and 43.6±14.4%, respectively, of that of the wild type enzyme. Our results suggest that these two variants each result in a severe MTHFR deficiency, which causes a developmental delay and cerebral vascular disease.

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Title: Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity
Authors: Hidetaka Yano
Kazuhiro Nakaso
Kenichi Yasui
Yosuke Wakutani
Hiroyuki Nakayasu
Hisanori Kowa
Yoshiki Adachi
Kenji Nakashima
Publication date: 01-06-2004
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 2/2004
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-004-0177-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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