GABA and the ornithine δ-aminotransferase gene in vigabatrin-associated visual field defects
GABA and the ornithine δ-aminotransferase gene in vigabatrin-associated visual field defects
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DOI：
10.1053/seiz.2001.0524
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发表时间：
2001-10-01
影响因子：
3
通讯作者：
Petroff, OAC
中科院分区：
文献类型：
--
作者：
Hisama, FM;Mattson, RH;Petroff, OAC
在一些癫痫患者中使用氨己烯酸与持续的视野收缩和视网膜功能障碍有关。其机制尚不清楚，但可能与氨己烯酸、慢性癫痫、GABA毒性或代谢物与易感基因型结合的作用有关。本研究的目的是调查后两个假设。通过核磁共振光谱法测量的大脑γ-氨基丁酸（GABA）水平在服用氨己烯酸的受试者中是相似的，这些受试者出现了视野收缩，而那些没有出现视野收缩的受试者则没有。我们测试了是否发生在受影响的患者的鸟氨酸氨基转移酶基因的等位基因异质性。没有临床意义的突变被检测到，虽然一个共同的内含子多态性被确定。(C)深圳市华诚贸易有限公司
Vigabatrin use in some epilepsy patients has been associated with persistent visual field constriction and retinal dysfunction. The mechanism is unknown, but could be related to vigabatrin, chronic epilepsy, GABA toxicity, or the effect of a metabolite in combination with a predisposing genotype. The aim of this study was to investigate the latter two hypotheses. Levels of brain gamma-aminobutyric acid (GABA) measured by nuclear magnetic resonance spectroscopy were similar in subjects taking vigabatrin who developed visual field constriction and those who did not. We tested whether allelic heterogeneity of the ornithine aminotransferase gene occurs in the affected patients. No clinically significant mutation was detected, although a common intronic polymorphism was identified. (C) 2001 BEA Trading Ltd.