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贝斯特蛋白的分子生理学:与贝斯特病及其他视网膜病变相关的多功能膜蛋白

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.

作者信息

Hartzell H Criss, Qu Zhiqiang, Yu Kuai, Xiao Qinghuan, Chien Li-Ting

机构信息

Department of Cell Biology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

出版信息

Physiol Rev. 2008 Apr;88(2):639-72. doi: 10.1152/physrev.00022.2007.

Abstract

This article reviews the current state of knowledge about the bestrophins, a newly identified family of proteins that can function both as Cl(-) channels and as regulators of voltage-gated Ca(2+) channels. The founding member, human bestrophin-1 (hBest1), was identified as the gene responsible for a dominantly inherited, juvenile-onset form of macular degeneration called Best vitelliform macular dystrophy. Mutations in hBest1 have also been associated with a small fraction of adult-onset macular dystrophies. It is proposed that dysfunction of bestrophin results in abnormal fluid and ion transport by the retinal pigment epithelium, resulting in a weakened interface between the retinal pigment epithelium and photoreceptors. There is compelling evidence that bestrophins are Cl(-) channels, but bestrophins remain enigmatic because it is not clear that the Cl(-) channel function can explain Best disease. In addition to functioning as a Cl(-) channel, hBest1 also is able to regulate voltage-gated Ca(2+) channels. Some bestrophins are activated by increases in intracellular Ca(2+) concentration, but whether bestrophins are the molecular counterpart of Ca(2+)-activated Cl(-) channels remains in doubt. Bestrophins are also regulated by cell volume and may be a member of the volume-regulated anion channel family.

摘要

本文综述了关于贝斯特rophins的当前知识状态,贝斯特rophins是一个新发现的蛋白质家族,既能作为氯离子通道发挥作用,又能作为电压门控钙通道的调节因子。该家族的创始成员,人类贝斯特rophin-1(hBest1),被确定为导致一种称为Best卵黄样黄斑营养不良的显性遗传、青少年发病形式黄斑变性的基因。hBest1中的突变也与一小部分成人发病的黄斑营养不良有关。有人提出,贝斯特rophin功能障碍会导致视网膜色素上皮细胞的液体和离子运输异常,从而削弱视网膜色素上皮细胞与光感受器之间的界面。有令人信服的证据表明贝斯特rophins是氯离子通道,但贝斯特rophins仍然神秘,因为不清楚氯离子通道功能是否能解释Best病。除了作为氯离子通道发挥作用外,hBest1还能够调节电压门控钙通道。一些贝斯特rophins可被细胞内钙离子浓度升高激活,但贝斯特rophins是否是钙激活氯离子通道的分子对应物仍存疑问。贝斯特rophins也受细胞体积调节,可能是体积调节性阴离子通道家族的成员。

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