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Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/10716

Title: Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2.
Authors: Schrauwen, Isabelle
VENKEN, Koen
Vanderstraeten, K
Thys, M
Hendrickx, JJ
Fransen, E
Van Laer, L
Govaerts, PJ
Versteken, M
Schatteman, I
STINISSEN, Piet
HELLINGS, Niels
Van Camp, G
Issue Date: 2010
Publisher: NATURE PUBLISHING GROUP
Citation: GENES AND IMMUNITY, 11(3). p. 246-253
Abstract: Otosclerosis is a common form of hearing loss, characterized by disordered bone remodeling in the otic capsule. Within the otosclerotic foci, several immunocompetent cells and immune-modulating factors can be found. Different etiological theories involving the immune system have been suggested. However, a genetic component is clearly present. In large otosclerosis families, seven autosomal-dominant loci have been found, but none of the disease-causing genes has been identified. This study focused on the exploration of the second otosclerosis locus on chromosome 7q34-36 (OTSC2), holding the T-cell receptor beta locus (TRB locus). A significantly lower T-cell receptor-beta (TCR-beta) mRNA expression and percentage of blood circulating TCR-alphabeta(+) T cells was detected in OTSC2 patients compared with controls and patients with the complex form of the disease. Further analysis illustrated more significant disturbances in specific T-cell subsets, including an increased CD28(null) cell population, suggesting a disturbed T-cell development and ageing in OTSC2 patients. These disturbances could be associated with otosclerotic bone remodeling, given the known effects of immunocompetent cells on bone physiology. These data implicate the TRB locus as the causative gene in the OTSC2 region and represent an important finding in the elucidation of the disease pathology.Genes and Immunity advance online publication, 25 February 2010; doi:10.1038/gene.2010.3.
Notes: 1. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium 2. Hasselt University, Biomedisch Onderzoeksinstituut and Transnationale Universiteit Limburg, School of Life Sciences, Diepenbeek, Belgium 3. The Eargroup, Antwerp-Deurne, Belgium 4. University Department of Otolaryngology, St-Augustinus Hospital Antwerp, Antwerp, Belgium - Correspondence: Dr G Van Camp, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Belgium. E-mail: guy.vancamp@ua.ac.be - The authors contributed equally to this work.
URI: http://hdl.handle.net/1942/10716
DOI: 10.1038/gene.2010.3
ISI #: 000276952300006
ISSN: 1466-4879
Category: A1
Type: Journal Contribution
Validation: ecoom, 2011
Appears in Collections: Research publications

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