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Dror, A.A.* ; Politi, Y.* ; Shahin, H.* ; Lenz, D.R.* ; Dossena, S.* ; Nofziger, C.* ; Fuchs, H. ; Hrabě de Angelis, M. ; Paulmichl, M.* ; Weiner, S.* ; Avraham, K.B.*

Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.

J. Biol. Chem. 285, 21724-21735 (2010)
Publ. Version/Full Text Research data DOI PMC
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Calcium oxalate stone formation occurs under pathological conditions and accounts for more than 80% of all types of kidney stones. In the current study, we show for the first time that calcium oxalate stones are formed in the mouse inner ear of a genetic model for hearing loss and vestibular dysfunction in humans. The vestibular system within the inner ear is dependent on extracellular tiny calcium carbonate minerals for proper function. Thousands of these biominerals, known as otoconia, are associated with the utricle and saccule sensory maculae and are vital for mechanical stimulation of the sensory hair cells. We show that a missense mutation within the Slc26a4 gene abolishes the transport activity of its encoded protein, pendrin. As a consequence, dramatic changes in mineral composition, size, and shape occur within the utricle and saccule in a differential manner. Although abnormal giant carbonate minerals reside in the utricle at all ages, in the saccule, a gradual change in mineral composition leads to a formation of calcium oxalate in adult mice. By combining imaging and spectroscopy tools, we determined the profile of mineral composition and morphology at different time points. We propose a novel mechanism for the accumulation and aggregation of oxalate crystals in the inner ear.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Amino Acid Sequence; Animals; Anion Transport Proteins/metabolism; Calcium Oxalate/chemistry*; Cochlea/pathology; Deafness/genetics; Ear; Inner/pathology; Extracellular Matrix/metabolism; Hair Cells; Auditory/metabolism; Humans; Membrane Transport Proteins/genetics*; Mice; Microscopy; Electron; Scanning/methods; Molecular Sequence Data; Mutation; Missense*; Rats; Sequence Homology; Amino Acid; Spectroscopy; Fourier Transform Infrared; Spectrum Analysis; Raman/methods
Language english
Publication Year 2010
HGF-reported in Year 2010
ISSN (print) / ISBN 0021-9258
e-ISSN 1083-351X
Journal Journal of Biological Chemistry, The
Quellenangaben Volume: 285, Issue: 28, Pages: 21724-21735 Article Number: , Supplement: ,
Publisher American Society for Biochemistry and Molecular Biology
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
POF-Topic(s) 30201 - Metabolic Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500600-003
PubMed ID 20442411
DOI 10.1074/jbc.M110.120188
Scopus ID 77954356181
Erfassungsdatum 2010-07-13
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