title: Vacuolar ATPases and their role in vision.
abstract: Vacuolar ATPases (v-ATPases) hydrolyze adenosine triphospate (ATP) to pump protons across cell membranes. Mutations in v-ATPase subunits are implicated in three human disorders: distal renal tubular acidosis, osteopetrosis, and cutis laxa type II. In the eye, the role of v-ATPases is only emerging. Mutations in v-ATPase subunits are not linked to human blindness, but altered proton pump function may underlie ocular pathologies. For example, inhibition of v-ATPase by A2E may accentuate age-related macular degeneration (AMD). In animal models, v-ATPase mutations perturb the retinal pigment epithelium (RPE) and photoreceptor outer segment (OS) phagocytosis, an event linked to retinal degeneration. As the RPE plays essential roles in eye development and vision, the study of v-ATPase-induced RPE dysfunction may improve our understanding of RPE diseases.
authors.affiliation: School of Biomolecular and Biomedical Science, Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland, Lisa.shine@ucd.ie.
authors.forename: Lisa
authors.initials: L
authors.lastname: Shine
authors.forename: Claire
authors.initials: C
authors.lastname: Kilty
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Gross
authors.forename: Breandan
authors.initials: B
authors.lastname: Kennedy
mesh_terms: D000818:Animals; D006801:Humans; D010587:Phagocytosis / Q000502:physiology*; D055214:Retinal Photoreceptor Cell Outer Segment / Q000201:enzymology*; D055213:Retinal Pigment Epithelium / Q000201:enzymology*; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D014785:Vision, Ocular / Q000502:physiology*
chemical_list: D025262:Vacuolar Proton-Translocating ATPases