ナトリウムチャネルNav1.7の機能喪失による変異がアノスミアを引き起こす
Jan Weiss1, Martina Pyrski, Eric Jacobi
1Department of Physiology, University of Saarland School of Medicine, 66421 Homburg, Germany.
Nature
|March 29, 2011
まとめ
Na (v) 1.7ナトリウムチャネルをコードするSCN9A遺伝子の機能喪失は,先天的な痛み感覚の欠如を引き起こし,ヒトとマウスの嗅覚を損なう.
科学分野:
- 神経科学は神経科学である.
- 遺伝学 遺伝学とは
- 感覚生物学 感覚生物学について
背景:
- SCN9A遺伝子は,電圧ゲートナトリウムチャネルNa (v) 1.7.7.をコードする.
- SCN9Aの機能喪失による突然変異は,ヒトの痛みに対する先天性無感を引き起こす.
研究 の 目的:
- 匂いの知覚におけるNa (v) 1.7の役割を調査する.
- 人とマウスの嗅覚機能にNa (v) 1.7が不可欠であるかどうかを判断する.
主な方法:
- SCN9A機能喪失変異を有するヒト患者を検査した.
- 嗅覚感覚ニューロンにNa(v) 1.7が欠けている条件付きゼロマウスを生成した.
- ミュータントマウスにおける嗅覚誘導行動の評価.
主要な成果:
- SCN9A変異を有するヒト患者は,匂いを嗅ぐことができなかった.
- Na(v) 1.7欠乏した嗅覚感覚ニューロンは,アクションポテンシャルを生成したにもかかわらず,シナプス信号を発信できませんでした.
- ミュータントマウスは,匂いの認識,回避,学習,母子の幼生回収に欠陥を示した.
結論:
- Na ((v) 1.7は,痛みの感覚と匂いの知覚の両方に不可欠です.
- この研究は,Na ((v) 1.7を嗅覚系における重要な分子プレーヤーとして確立しています.
- 発見は,先天的な全身アノスミアのマウスモデルを提供し,ヒトの嗅覚の遺伝的基盤の洞察を提供します.
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