ディヒドロピリジン受容体の変異は,低血圧周期性麻痺を引き起こす

L J Ptácek¹, R Tawil, R C Griggs

¹Department of Neurology, University of Utah Health Sciences Center, Salt Lake City 84132.

Cell

|June 17, 1994

まとめ

低血量周期性麻痺 (hypoKPP) は,ダイヒドロピリジン (DHP) 受容体遺伝子の変異と関連しています. これらの遺伝的変化は,エピソード的な筋肉の弱さと低血清カリウムレベルを引き起こす.

科学分野:

遺伝学遺伝学とは
分子生物学は分子生物学である.
神経学神経学とは

背景:

低血量周期性麻痺 (hypoKPP) は,遺伝性筋肉障害である.
それは,低カリウムレベルに関連した筋肉の弱さのエピソードを引き起こす.
以前の研究では,ヒポKPPを二水ピリジン (DHP) 受容体遺伝子の近くにある染色体1と関連付けていました.

研究の目的:

低血圧性周期性麻痺 (hypoKPP) に起因する特定の遺伝子を特定する.
hypoKPP.と関連したダイヒドロピリジン (DHP) 受容体遺伝子内の変異を特徴付ける.

主な方法:

ハイポKPP遺伝子を局所化する遺伝的リンク分析.
ディヒドロピリジン (DHP) 受容体遺伝子の患者特異変異の特徴.
変異部位と予測されたアミノ酸置換の分析.

主要な成果:

33のハイポKPP親族のうち11のダイヒドロピリジン (DHP) 受容体遺伝子の患者特異変異を特定しました.
変異は特定のヌクレオチドの位置で発生し,保存されたアルギニンの残留物を変化させた.
一つの突然変異は,家族的なケースでde novoとして特定されました.

結論:

ディヒドロピリジン (DHP) 受容体遺伝子は,低血量周期性麻痺 (hypoKPP) の原因遺伝子として確立されています.
この発見は,ハイポKPPと潜在的な治療標的の分子基盤を提供します.
現在,ダイヒドロピリジン (DHP) 受容体変異に起因する他のヒト疾患は知られていない.

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