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4-氯丙泊酚增强人类发作性睡病和人工突变甘氨酸受体的氯离子电流。

4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors.

机构信息

Clinic for Anesthesia and Critical Care Medicine, OE 8050, Hannover Medical School, Carl-Neuberg-Str, 1, 30625, Hannover, Germany.

出版信息

BMC Neurol. 2012 Sep 24;12:104. doi: 10.1186/1471-2377-12-104.

Abstract

BACKGROUND

The mammalian neurological disorder hereditary hyperekplexia can be attributed to various mutations of strychnine sensitive glycine receptors. The clinical symptoms of "startle disease" predominantly occur in the newborn leading to convulsive hypertonia and an exaggerated startle response to unexpected mild stimuli. Amongst others, point mutations R271Q and R271L in the α1-subunit of strychnine sensitive glycine receptors show reduced glycine sensitivity and cause the clinical symptoms of hyperekplexia.Halogenation has been shown to be a crucial structural determinant for the potency of a phenolic compound to positively modulate glycine receptor function.The aim of this in vitro study was to characterize the effects of 4-chloropropofol (4-chloro-2,6-dimethylphenol) at four glycine receptor mutations.

METHODS

Glycine receptor subunits were expressed in HEK 293 cells and experiments were performed using the whole-cell patch-clamp technique.

RESULTS

4-chloropropofol exerted a positive allosteric modulatory effect in a low sub-nanomolar concentration range at the wild type receptor (EC50 value of 0.08 ± 0.02 nM) and in a micromolar concentration range at the mutations (1.3 ± 0.6 μM, 0.1 ± 0.2 μM, 6.0 ± 2.3 μM and 55 ± 28 μM for R271Q, L, K and S267I, respectively).

CONCLUSIONS

4-chloropropofol might be an effective compound for the activation of mutated glycine receptors in experimental models of startle disease.

摘要

背景

哺乳动物神经系统疾病遗传性肌阵挛可归因于多种士的宁敏感甘氨酸受体突变。“惊吓病”的临床症状主要发生在新生儿期,导致惊厥性张力亢进和对意外轻度刺激的过度惊吓反应。其中,甘氨酸受体α1亚单位的 R271Q 和 R271L 点突变显示出降低的甘氨酸敏感性,并导致肌阵挛的临床症状。卤化已被证明是酚类化合物对甘氨酸受体功能产生正向调节作用的关键结构决定因素。本体外研究的目的是表征 4-氯丙泊酚(4-氯-2,6-二甲基苯酚)在四种甘氨酸受体突变体中的作用。

方法

甘氨酸受体亚单位在 HEK 293 细胞中表达,使用全细胞膜片钳技术进行实验。

结果

4-氯丙泊酚在野生型受体中以低亚纳摩尔浓度范围(EC50 值为 0.08 ± 0.02 nM)发挥正变构调节剂作用,在突变体中以微摩尔浓度范围发挥作用(1.3 ± 0.6 μM、0.1 ± 0.2 μM、6.0 ± 2.3 μM 和 55 ± 28 μM 分别为 R271Q、L、K 和 S267I)。

结论

4-氯丙泊酚可能是惊吓病实验模型中突变甘氨酸受体激活的有效化合物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a8a/3517478/e61607c48bc7/1471-2377-12-104-1.jpg

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