The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor
The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor
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DOI：
10.1038/sj.ejhg.5201958
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发表时间：
2008-02-01
影响因子：
5.2
通讯作者：
Becker, Cord-Michael
中科院分区：
文献类型：
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作者：
Becker, Kristina;Breitinger, Hans-Georg;Becker, Cord-Michael
编码抑制性甘氨酸受体(GlyR)α1亚单位的GLRA1基因突变是大多数遗传性惊厥病(OMIM号149400)的潜在原因。GlyRs受酒精和挥发性麻醉剂的调节，其中267位的特定氨基酸参与了受体的调节。我们描述了一个携带新的显性显性错义等位基因GLRA1(S267N)的亢进症家系，该基因影响突变受体的激动剂反应和乙醇调节。这项研究表明，与疾病相关的受体等位基因有可能改变受影响患者的药物反应。
Mutations in the GLRA1 gene, which encodes the alpha 1-subunit of the inhibitory glycine receptor (GlyR), are the underlying causes in the majority of cases of hereditary startle disease (OMIM no. 149400). GlyRs are modulated by alcohols and volatile anesthetics, where a specific amino acid at position 267 has been implicated in receptor modulation. We describe a hyperekplexia family carrying the novel dominant missense allele GLRA1(S267N), that affects agonist responses and ethanol modulation of the mutant receptor. This study implies that a disease-related receptor allele carries the potential to alter drug responses in affected patients.