理解和治疗 SCN2A 介导疾病的进展。
Progress in Understanding and Treating SCN2A-Mediated Disorders.
机构信息
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA.
出版信息
Trends Neurosci. 2018 Jul;41(7):442-456. doi: 10.1016/j.tins.2018.03.011. Epub 2018 Apr 23.
Abstract
Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel Na1.2. Functional assays demonstrate strong correlation between genotype and phenotype. This insight can help guide therapeutic decisions and raises the possibility that ligands that selectively enhance or diminish channel function may improve symptoms. The well-defined function of sodium channels makes SCN2A an important test case for investigating the neurobiology of neurodevelopmental disorders more generally. Here, we discuss the progress made, through the concerted efforts of a diverse group of academic and industry scientists as well as policy advocates, in understanding and treating SCN2A-related disorders.
摘要
神经发育障碍相关基因研究的进展表明 SCN2A 功能障碍是导致婴儿癫痫、自闭症谱系障碍和智力障碍的主要原因。SCN2A 编码神经元钠离子通道 Na1.2。功能检测证实基因型与表型之间具有很强的相关性。这一发现有助于指导治疗决策，并提出了一种可能性，即选择性增强或减弱通道功能的配体可能改善症状。钠离子通道的明确功能使得 SCN2A 成为研究神经发育障碍神经生物学的一个重要范例。在这里，我们讨论了通过一个多元化的学术和工业科学家以及政策倡导者的共同努力，在理解和治疗 SCN2A 相关疾病方面取得的进展。
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