377 Review Cell Physiol Biochem 2011;28:377-384 Accepted: October 10, 2011 Cellular Physiology Cellular Physiology Cellular Physiology Cellular Physiology Cellular Physiology and Biochemistr and Biochemistr and Biochemistr and Biochemistr and Biochemistry Copyright © 2011 S. Karger AG, Basel Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com © 2011 S. Karger AG, Basel 1015-8987/11/0283-0377$38.00/0 Accessible online at: www.karger.com/cpb Abstract Human pendrin (SCL26A4, PDS) is a 780 amino acid integral membrane protein with transport function. It acts as an electroneutral, sodium- independent anion exchanger for a wide range of anions, such as iodide, chloride, formate, bicarbonate, hydroxide and thiocyanate. Pendrin expression was originally described in the thyroid gland, kidney and inner ear. Accordingly, pendrin mutations with reduction or loss of transport function result in thyroid and inner ear abnormalities, manifested as syndromic (Pendred syndrome) and non- s yndromic hearing loss with an e nlarged vestibular aqueduct (ns-EVA). Pendred syndrome, the most common form of syndromic deafness, is an autosomal recessive disease characterized by sensorineural deafness due to inner ear malformations and a partial iodide organification defect that may lead to thyroid goiter. Later, it became evident that not only pendrin loss of function, but also up-regulation could participate in the pathogenesis of human diseases. Indeed, despite the absence of kidney dysfunction in Pendred syndrome patients, evidence exists that pendrin also plays a crucial role in this organ, with a potential involvement in the pathogenesis of hypertension. In addition, recent data underscore the role of pendrin in exacerbations of respiratory distresses including bronchial asthma and chronic obstructive pulmonary disease (COPD). Pendrin expression in other organs such as mammary gland, testis, placenta, endometrium and liver point to new, underscored pendrin functions that deserve to be further investigated. European Science Foundation (ESF) - The Exploratory Workshops The European Science Foundation (ESF) was established in 1974 to provide a common platform for its Member Organizations to advance European research Key Words Pendrin  Inherited hearing loss  Functional test  Ion transport  Pendred syndrome  EVA  SLC26A4 Markus Paulmichl MD, Institute of Pharmacology and Toxicology, Paracelsus Medical University, Strubergasse 21, Salzburg, A-5020 (Austria) Tel. +43-662-442002-1230, Fax +43-662-442002-1239; E-Mail markus.paulmichl@pmu.ac.at The ESF Meeting on „The Proteomics, Epigenetics and Pharmacogenetics of Pendrin“ Silvia Dossena 1 *, Charity Nofziger 1 *, Florian Lang 2 , Giovanna Valenti 3 and Markus Paulmichl 1 1 Institute of Pharmacology and Toxicology, Paracelsus Medical University, Salzburg, 2 Department of Physiology, University of Tübingen, Tübingen, 3 Department of General and Environmental Physiology, University of Bari, Bari, *SD and CN contributed equally to the present work