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果蝇易激基因:磷脂合成途径中的一种突变导致癫痫发作、神经元功能衰竭和麻痹。

The Drosophila easily shocked gene: a mutation in a phospholipid synthetic pathway causes seizure, neuronal failure, and paralysis.

作者信息

Pavlidis P, Ramaswami M, Tanouye M A

机构信息

Department of Molecular and Cell Biology, University of California, Berkeley 94720.

出版信息

Cell. 1994 Oct 7;79(1):23-33. doi: 10.1016/0092-8674(94)90397-2.

Abstract

We have characterized easily shocked (eas), a Drosophila "band-sensitive" paralytic mutant. Electrophysiological recordings from flight muscles in the giant fiber pathway of adult eas flies reveal that induction of paralysis with electrical stimulation results in a brief seizure, followed by a failure of the muscles to respond to giant fiber stimulation. Molecular cloning, germline transformation, and biochemical experiments show that eas mutants are defective in the gene for ethanolamine kinase, which is required for a pathway of phosphatidylethanolamine synthesis. Assays of phospholipid composition reveal that total phosphatidylethanolamine is decreased in eas mutants. The data suggest that eas bang sensitivity is due to an excitability defect caused by altered membrane phospholipid composition.

摘要

我们已经鉴定了一种易受电击的(eas)果蝇“带敏感型”麻痹突变体。对成年eas果蝇巨纤维通路中飞行肌肉的电生理记录显示,电刺激诱发麻痹会导致短暂的癫痫发作,随后肌肉对巨纤维刺激无反应。分子克隆、种系转化和生化实验表明,eas突变体的乙醇胺激酶基因存在缺陷,而该基因是磷脂酰乙醇胺合成途径所必需的。磷脂组成分析显示,eas突变体中总磷脂酰乙醇胺减少。数据表明,eas对带的敏感性是由于膜磷脂组成改变导致的兴奋性缺陷。

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