title: Aquaporins in clinical medicine.
abstract: The aquaporins are a family of membrane water channels, some of which also transport glycerol. They are involved in a wide range of physiological functions (including water/salt homeostasis, exocrine fluid secretion, and epidermal hydration) and human diseases (including glaucoma, cancer, epilepsy, and obesity). At the cellular level, aquaporin-mediated osmotic water transport across cell plasma membranes facilitates transepithelial fluid transport, cell migration, and neuroexcitation; aquaporin-mediated glycerol transport regulates cell proliferation, adipocyte metabolism, and epidermal water retention. Genetic diseases caused by loss-of-function mutations in aquaporins include nephrogenic diabetes insipidus and congenital cataracts. The neuroinflammatory demyelinating disease neuromyelitis optica is marked by pathogenic autoantibodies against astrocyte water channel aquaporin-4. There remain broad opportunities for the development of aquaporin-based diagnostics and therapeutics. Disease-relevant aquaporin polymorphisms are beginning to be explored. There is great promise in the development of small-molecule aquaporin modulators for therapy of some types of refractory edema, brain swelling, neuroinflammation, glaucoma, epilepsy, cancer, pain, and obesity.
authors.affiliation: Department of Medicine, University of California, San Francisco, California 94143-0521, USA. Alan.Verkman@ucsf.edu
authors.forename: A S
authors.initials: AS
authors.lastname: Verkman
mesh_terms: D020346:Aquaporins / Q000235:genetics / Q000502:physiology*; D001929:Brain Edema / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D009471:Neuromyelitis Optica / Q000235:genetics / Q000503:physiopathology*; D009765:Obesity / Q000235:genetics / Q000503:physiopathology*; D014882:Water-Electrolyte Balance / Q000502:physiology*
chemical_list: D020346:Aquaporins