title: Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration.
abstract: 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.
authors.affiliation: Department of Cell Biology, The Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USA. criss.hartzell@emory.edu
authors.forename: Criss
authors.initials: C
authors.lastname: Hartzell
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Qu
authors.forename: Ilva
authors.initials: I
authors.lastname: Putzier
authors.forename: Liana
authors.initials: L
authors.lastname: Artinian
authors.forename: Li-Ting
authors.initials: LT
authors.lastname: Chien
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Cui
mesh_terms: D000818:Animals; D000075002:Bestrophins; D018118:Chloride Channels / Q000235:genetics / Q000378:metabolism*; D005123:Eye / Q000378:metabolism*; D005136:Eye Proteins / Q000378:metabolism*; D006801:Humans; D008062:Lipofuscin / Q000378:metabolism; D008268:Macular Degeneration / Q000235:genetics; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism*; D015388:Organelles / Q000378:metabolism; D012162:Retinal Degeneration / Q000378:metabolism*
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D008062:Lipofuscin