CACNA 基因家族综述:其在神经系统疾病中的作用

Diseases Pub Date : 2024-05-05 DOI:10.3390/diseases12050090
Oliwia Szymanowicz, Artur Drużdż, B. Słowikowski, Sandra Pawlak, Ewelina Potocka, Ulyana Goutor, Mateusz Konieczny, Małgorzata Ciastoń, Aleksandra Lewandowska, Paweł P. Jagodziński, W. Kozubski, J. Dorszewska
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引用次数: 0

摘要

钙通道是一种特殊的离子通道,对钙离子具有选择性通透性。钙通道包括电压依赖型和配体门控型,在神经元功能中起着关键作用,其失调与各种神经系统疾病有关。本综述深入探讨了 CACNA 基因(包括 CACNA1A、CACNA1B、CACNA1C、CACNA1D、CACNA1E、CACNA1G 和 CACNA1H)在偏头痛、癫痫、小脑共济失调、肌张力障碍和小脑萎缩等疾病的发病机制中的重要作用。具体来说,CACNA1A 的变异与家族性偏瘫性偏头痛和癫痫发作有关,突出了其在神经系统疾病病因学中的重要性。此外,CACNA1B 的不同遗传变异也与偏头痛易感性有关,这进一步突出了 CACNA 基因在偏头痛病理学中的作用。CACNA 基因变异与神经系统表型(包括局灶性癫痫发作和共济失调)之间的复杂关系呈现出钙通道功能受损的多种临床表现。本文旨在探讨 CACNA 基因在各种神经系统疾病中的作用,阐明其在偏头痛、癫痫和小脑共济失调等疾病中的意义。进一步探讨CACNA基因变异及其与分子因素(如microRNAs)的相互作用,有望加深我们对遗传性神经系统疾病的理解。
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A Review of the CACNA Gene Family: Its Role in Neurological Disorders
Calcium channels are specialized ion channels exhibiting selective permeability to calcium ions. Calcium channels, comprising voltage-dependent and ligand-gated types, are pivotal in neuronal function, with their dysregulation is implicated in various neurological disorders. This review delves into the significance of the CACNA genes, including CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, and CACNA1H, in the pathogenesis of conditions such as migraine, epilepsy, cerebellar ataxia, dystonia, and cerebellar atrophy. Specifically, variants in CACNA1A have been linked to familial hemiplegic migraine and epileptic seizures, underscoring its importance in neurological disease etiology. Furthermore, different genetic variants of CACNA1B have been associated with migraine susceptibility, further highlighting the role of CACNA genes in migraine pathology. The complex relationship between CACNA gene variants and neurological phenotypes, including focal seizures and ataxia, presents a variety of clinical manifestations of impaired calcium channel function. The aim of this article was to explore the role of CACNA genes in various neurological disorders, elucidating their significance in conditions such as migraine, epilepsy, and cerebellar ataxias. Further exploration of CACNA gene variants and their interactions with molecular factors, such as microRNAs, holds promise for advancing our understanding of genetic neurological disorders.
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