Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration.
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.
Hartzell
Criss
C
Department of Cell Biology, The Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USA. criss.hartzell@emory.edu
Qu
Zhiqiang
Z
Putzier
Ilva
I
Artinian
Liana
L
Chien
Li-Ting
LT
Cui
Yuanyuan
Y
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*
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D008062:Lipofuscin