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Otorinolaringologia 2011 June;61(2):23-39

Copyright © 2011 EDIZIONI MINERVA MEDICA

language: English

Genetics of otosclerosis: current research and opinions

Karosi T.

Department of Otolaryngology and Head and Neck Surgery, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary


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The main goal of this report to review our current knowledge of the genetic background of otosclerotic bone remodeling disorder including measles virus infection, autoimmunity and inflammation and to discuss disease pathogenesis with clinical relevance for biological therapy. Relevant publications on the etiopathogenesis, molecular biology, genetics and histopathology of otosclerosis from 1984 to 2011 were overviewed and analyzed. Otosclerosis is a disease of pathologically increased bone turnover of the human otic capsule; however, the etiopathogenesis and genetics remained unclear. Genetic predisposition, disturbed bone metabolism, persistent measles virus infection, inflammatory processes, autoimmunity, hormonal and environmental factors also may play contributing roles in the pathogenesis of otosclerosis. Since, diagnosis of otosclerosis is still based on histopathological examination of the surgically removed stapes footplate; otosclerotic- and non-otosclerotic stapes fixation cases cannot be distinguished preoperatively. In conclusion, systemic prospective studies based on comprehensive histopathologic-, molecular biologic- and genetic analysis are necessary to get further information about the background of disease in order to find the most promising treatment option.

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