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

Hidetaka Yano1, Kazuhiro Nakaso, Kenichi Yasui

  • 1Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishimachi, 683-8504, Yonago, Japan. hydeta@grape.med.tottori-u.ac.jp

Neurogenetics
|March 30, 2004
PubMed
Summary
This summary is machine-generated.

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Methylenetetrahydrofolate reductase (MTHFR) gene mutations can cause severe enzyme deficiency. These MTHFR variants are linked to hyperhomocysteinemia, developmental delays, and cerebral vascular disease.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Methylenetetrahydrofolate reductase (MTHFR) is crucial for synthesizing 5-methyltetrahydrofolate, essential for converting homocysteine to methionine.
  • Hyperhomocysteinemia is a condition characterized by elevated homocysteine levels, linked to various health issues.

Observation:

  • This study investigated the enzyme activity of MTHFR mutants identified in a patient with hyperhomocysteinemia.
  • A novel 428C>T mutation in MTHFR exon 2 and a known [458G>T+459C>T] mutation in exon 2 were analyzed.

Findings:

  • The 428C>T mutation resulted in MTHFR enzyme activity of 12.7±4.7% of wild type.
  • The [458G>T+459C>T] mutation showed 48.1±18.8% activity, and the 677C>T mutation showed 43.6±14.4% activity.
  • Both novel and known MTHFR variants lead to severe MTHFR deficiency.

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Implications:

  • Severe MTHFR deficiency due to these variants can cause developmental delay.
  • These MTHFR mutations are associated with an increased risk of cerebral vascular disease.
  • Understanding MTHFR variants is critical for diagnosing and managing related metabolic disorders.