メチレンテトラヒドロフォラート還元酵素の一般的な変異である葉酸の状態と,血ホモシステイン濃度の関係
P F Jacques1, A G Bostom, R R Williams
1Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, Mass, USA.
Circulation
|January 1, 1996
まとめ
共通のMTHFR変異を有する個人は,より多くの葉酸を必要とすることがあります. この変異と組み合わせた葉酸の低いレベルは,心血管疾患の危険因子であるホモシステインを大幅に増加させます.
科学分野:
- バイオケミストリー バイオケミストリー
- 遺伝学 遺伝学とは
- 栄養科学とは,栄養科学である.
背景:
- メチレンテトラヒドロフォラート還元酵素 (MTHFR) は,葉酸代謝に不可欠であり,5-メチルテトラヒドロフォラートを合成します.
- 一般的なMTHFR変異 (アラニンとヴァリンの置換) により,熱可変酵素が生じる.
- この変異は,心血管疾患の危険因子である血ホモシステイン濃度の上昇につながる可能性があります.
研究 の 目的:
- ホモシステイン代謝におけるMTHFR変異と葉酸レベルとの相互作用を調査する.
- 葉酸の状態が,MTHFR変異がホモシステインレベルに与える影響を変化させるかどうかを判断する.
主な方法:
- NHLBI ファミリー・ハート・スタディの365人の被験者のスクリーニング.
- 一般的なMTHFR変異のゲノタイプ化.
- 血葉酸と全断食ホモシステイン濃度の測定.
主要な成果:
- 低血葉酸 (<15.4 nmol/L) を有する個体では,同位体型MTHFR変異遺伝子型は,ホモシステイン濃度 (P<.05) が24%高いものと関連していました.
- 適切な葉酸濃度 (≥15.4 nmol/L) を有する個体におけるゲノタイプ間のホモシステイン濃度の有意な差は観察されなかった.
結論:
- 熱可変性MTHFR変異を有する個人は,葉酸の必要性が増加している可能性があります.
- 葉酸サプリメントは,この変異を有する個体において,ハイパーホモシスタイン血症を予防するために不可欠である可能性があります.
- 適切な葉酸のレベルを維持することは,MTHFR変異を持つ人のホモシステイン濃度を管理するために重要です.
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