Looking chloride channels straight in the eye: Bestrophins, lipofuscinosis, and retinal degeneration
Looking chloride channels straight in the eye: Bestrophins, lipofuscinosis, and retinal degeneration
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DOI：
10.1152/physiol.00021.2005
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发表时间：
2005-10-01
期刊：
影响因子：
8.4
通讯作者：
Cui, YY
中科院分区：
文献类型：
--
作者：
Hartzell, C;Qu, ZQ;Cui, YY
最近的证据表明，氯离子通道对于视网膜完整性很重要。人类黄斑黄蛋白 Cl- 通道突变与青少年黄斑变性有遗传相关性，而小鼠中某些 ClC Cl- 通道的破坏会导致视网膜变性。在这两种情况下，脂褐素色素的积累是细胞变性的关键特征。由于Cl-通道在内体-溶酶体途径中调节细胞器内的离子环境，因此溶酶体运输或功能缺陷可能导致视网膜变性。
Recent evidence suggests that Cl- ion channels are important for retinal integrity. Bestrophin Cl- channel mutations in humans are genetically linked to a juvenile form of macular degeneration, and disruption of some ClC Cl- channels in mice leads to retinal degeneration. In both cases, accumulation of lipofuscin pigment is a key feature of the cellular degeneration. Because Cl- channels regulate the ionic environment inside organelles in the endosomal-lysosomal pathway, retinal degeneration may result from defects in lysosomal trafficking or function.