Open AccessIdentification of Allelic Variants of Pendrin (SLC26A4) with Loss and Gain of Function
Author(s) -
Silvia Dossena,
Aigerim Bizhanova,
Charity Nofziger,
Emanuele Bernardinelli,
Josef Ramsauer,
Peter Kopp,
Markus Paulmichl
Publication year - 2011
Publication title -
cellular physiology and biochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.486
H-Index - 87
eISSN - 1421-9778
pISSN - 1015-8987
DOI - 10.1159/000335108
Subject(s) - pendrin , endocrinology , allele , meniere's disease , medicine , genetics , biology , gene , transporter , disease
Pendrin is a multifunctional anion transporter that exchanges chloride and iodide in the thyroid, as well as chloride and bicarbonate in the inner ear, kidney and airways. Loss or reduction in the function of pendrin results in both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct (ns-EVA)) hearing loss. Factors inducing an up-regulation of pendrin in the kidney and the lung may have an impact on the pathogenesis of hypertension, chronic obstructive pulmonary disease (COPD) and asthma. Here we characterize the ion transport activity of wild-type (WT) pendrin and seven of its allelic variants selected among those reported in the single nucleotide polymorphisms data base (dbSNPs), some of which were previously identified in a cohort of individuals with normal hearing or deaf patients belonging to the Spanish population.