The impact of human hyperekplexia mutations on glycine receptor structure and function
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- 作者：Anna Bode (1)
Joseph W Lynch (2) - 关键词：Cys ; loop receptor ; Ligand ; gated ion channel ; Chloride channel ; Startle disease ; Glycinergic neurotransmission
- 刊名：Molecular Brain
- 出版年：2014
- 出版时间：December 2014
- 年：2014
- 卷：7
- 期：1
- 全文大小：741 KB
- 作者单位：Anna Bode (1)
Joseph W Lynch (2)
1. Queensland Brain Institute, The University of Queensland, Queensland, 4072, Australia
2. Queensland Brain Institute and School of Biomedical Sciences, The University of Queensland, Queensland, 4072, Australia - ISSN：1756-6606
文摘
Hyperekplexia is a rare neurological disorder characterized by neonatal hypertonia, exaggerated startle responses to unexpected stimuli and a variable incidence of apnoea, intellectual disability and delays in speech acquisition. The majority of motor defects are successfully treated by clonazepam. Hyperekplexia is caused by hereditary mutations that disrupt the functioning of inhibitory glycinergic synapses in neuromotor pathways of the spinal cord and brainstem. The human glycine receptor α1 and β subunits, which predominate at these synapses, are the major targets of mutations. International genetic screening programs, that together have analysed several hundred probands, have recently generated a clear picture of genotype-phenotype correlations and the prevalence of different categories of hyperekplexia mutations. Focusing largely on this new information, this review seeks to summarise the effects of mutations on glycine receptor structure and function and how these functional alterations lead to hyperekplexia.