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离子通道作为自闭症谱系障碍治疗的潜在靶点:综述。

Ionic Channels as Potential Targets for the Treatment of Autism Spectrum Disorder: A Review.

机构信息

Postgraduate Program in Natural Synthetic and Bioactive Products, Heath Sciences Center, Federal University of Paraíba - Campus I, 58051-085, Via Ipê Amarelo, S/N, João Pessoa, Paraíba, Brazil.

Department of Paediatrics and Genetics, Medical Science Center, Federal University of Paraíba - Campus I, 58051-900, Via Ipê Amarelo, S/N, João Pessoa, Paraíba, Brazil.

出版信息

Curr Neuropharmacol. 2022;20(10):1834-1849. doi: 10.2174/1570159X19666210809102547.

DOI:10.2174/1570159X19666210809102547
PMID:34370640
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9886809/
Abstract

Autism spectrum disorder (ASD) is a neurological condition that directly affects brain functions and can culminate in delayed intellectual development, problems in verbal communication, difficulties in social interaction, and stereotyped behaviors. Its etiology reveals a genetic basis that can be strongly influenced by socio-environmental factors. Ion channels controlled by ligand voltage-activated calcium, sodium, and potassium channels may play important roles in modulating sensory and cognitive responses, and their dysfunctions may be closely associated with neurodevelopmental disorders such as ASD. This is due to ionic flow, which is of paramount importance to maintaining physiological conditions in the central nervous system and triggers action potentials, gene expression, and cell signaling. However, since ASD is a multifactorial disease, treatment is directed only to secondary symptoms. Therefore, this research aims to gather evidence concerning the principal pathophysiological mechanisms involving ion channels in order to recognize their importance as therapeutic targets for the treatment of central and secondary ASD symptoms.

摘要

自闭症谱系障碍(ASD)是一种神经系统疾病,直接影响大脑功能,可能导致智力发育迟缓、语言交流问题、社交互动困难和刻板行为。其病因揭示了遗传基础,而遗传基础可能受到社会环境因素的强烈影响。配体电压激活钙、钠和钾通道控制的离子通道可能在调节感觉和认知反应方面发挥重要作用,其功能障碍可能与自闭症谱系障碍等神经发育障碍密切相关。这是因为离子流对于维持中枢神经系统的生理状态至关重要,并且可以引发动作电位、基因表达和细胞信号转导。然而,由于自闭症谱系障碍是一种多因素疾病,因此治疗仅针对次要症状。因此,本研究旨在收集涉及离子通道的主要病理生理机制的证据,以认识到它们作为治疗中枢和次要自闭症谱系障碍症状的治疗靶点的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/695e/9886809/cadd017b2ebc/CN-20-1834_F5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/695e/9886809/4f4c3890bc34/CN-20-1834_F1.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/695e/9886809/5b9e90225f1f/CN-20-1834_F4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/695e/9886809/cadd017b2ebc/CN-20-1834_F5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/695e/9886809/4f4c3890bc34/CN-20-1834_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/695e/9886809/a2e218f1e04e/CN-20-1834_F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/695e/9886809/1f5bf5b3e71e/CN-20-1834_F3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/695e/9886809/5b9e90225f1f/CN-20-1834_F4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/695e/9886809/cadd017b2ebc/CN-20-1834_F5.jpg

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From Genotype to Phenotype: Expanding the Clinical Spectrum of Variants in the Era of Next Generation Sequencing.从基因型到表型:在下一代测序时代拓展变异的临床谱
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Multiplex gene and phenotype network to characterize shared genetic pathways of epilepsy and autism.
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Sci Rep. 2021 Jan 13;11(1):952. doi: 10.1038/s41598-020-78654-y.
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Research Round Up.研究综述。
Lancet Psychiatry. 2021 Jan;8(1):20. doi: 10.1016/S2215-0366(20)30535-6.
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Ionic Channels as Potential Therapeutic Targets for Erectile Dysfunction: A Review.离子通道作为勃起功能障碍的潜在治疗靶点:综述
Front Pharmacol. 2020 Jul 24;11:1120. doi: 10.3389/fphar.2020.01120. eCollection 2020.
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Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.纯合缺失提示自闭症谱系障碍中非编码表观遗传标记的作用。
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