Ophoff R A, Terwindt G M, Ferrari M D, Frants R R
MGC-Department of Human Genetics, Leiden University Medical Center, The Netherlands.
Histol Histopathol. 1998 Jul;13(3):827-36. doi: 10.14670/HH-13.827.
Neurotransmitter release, neuronal excitation, and a whole variety of other neuronal functions are controlled by the intra/extra cellular Ca2+ gradient. The major pathway for entry of Ca2+ into the excitable cells is mediated by voltage-gated Ca2+ channels. Several functional subclasses of voltage-dependent Ca2+ channels have been identified, based on their pharmacological, biophysical properties, and molecular cloning. Recently, three human diseases (familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia 6) were added to the growing list of ion-channel disorders, all caused by different mutations in the P/Q-type Ca2+ channel alpha 1 subunit. Molecular analysis of the Ca2+ channelopathies will provide new insights into the role, function and pathology of these voltage-gated Ca2+ channels.
神经递质释放、神经元兴奋以及各种各样的其他神经元功能都受细胞内/外钙离子梯度的控制。钙离子进入可兴奋细胞的主要途径是由电压门控钙离子通道介导的。基于其药理学、生物物理学特性以及分子克隆，已鉴定出电压依赖性钙离子通道的几个功能亚类。最近，三种人类疾病（家族性偏瘫性偏头痛、发作性共济失调2型和脊髓小脑共济失调6型）被添加到不断增加的离子通道疾病列表中，这些疾病均由P/Q型钙离子通道α1亚基的不同突变引起。对钙离子通道病的分子分析将为这些电压门控钙离子通道的作用、功能和病理学提供新的见解。
