Breitenkamp Alexandra F, Matthes Jan, Herzig Stefan
Department of Pharmacology, University of Cologne, Cologne, Germany.
Curr Mol Pharmacol. 2015;8(2):123-32. doi: 10.2174/1874467208666150507105235.
Autism spectrum disorder is a complex-genetic disease and its etiology is unknown for the majority of cases. So far, more than one hundred different susceptibility genes were detected. Voltage-gated calcium channels are among the candidates linked to autism spectrum disorder by results of genetic studies. Mutations of nearly all pore-forming and some auxiliary subunits of voltage gated calcium channels have been revealed from investigations of autism spectrum disorder patients and populations. Though there are only few electrophysiological characterizations of voltage-gated calcium channel mutations found in autistic patients these studies suggest their functional relevance. In summary, both genetic and functional data suggest a potential role of voltage-gated calcium channels in autism spectrum disorder. Future studies require refinement of the clinical and systems biological concepts of autism spectrum disorder and an appropriate holistic approach at the molecular level, e.g. regarding all facets of calcium channel functions.
自闭症谱系障碍是一种复杂的遗传性疾病，大多数病例的病因尚不清楚。到目前为止，已检测出一百多种不同的易感基因。通过基因研究结果，电压门控钙通道是与自闭症谱系障碍相关的候选基因之一。对自闭症谱系障碍患者和群体的调查发现，几乎所有电压门控钙通道的孔形成亚基和一些辅助亚基都存在突变。虽然在自闭症患者中发现的电压门控钙通道突变的电生理特征很少，但这些研究表明了它们的功能相关性。总之，遗传和功能数据都表明电压门控钙通道在自闭症谱系障碍中具有潜在作用。未来的研究需要完善自闭症谱系障碍的临床和系统生物学概念，并在分子水平上采取适当的整体方法，例如考虑钙通道功能的所有方面。
