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Published on: October 9, 2014
Detection of otosclerosis-specific measles virus receptor (cd46) protein isoforms
Balázs Liktor1, Péter Csomor, Tamás Karosi
1Bajcsy-Zsilinszky Hospital, Department of Otolaryngology, Budapest, Hungary.
Abstract:
Genetic predisposition of otosclerosis has long been suspected, but unclarified. Unique coexpression pattern of measles virus receptor (CD46) splicing isoforms in the human otic capsule is assumed, since otosclerosis is a measles virus-associated organ-specific disease. In order to identify CD46 involved in the pathogenesis of otosclerosis, we used representative groups of histologically diagnosed otosclerotic, nonotosclerotic, and normal stapes footplates (n = 109). Consecutive histopathological examinations and CD46-specific Western blot analysis were performed. Normal and nonotosclerotic stapes footplates showed consistent expression of the conventional c, d, e, f, and l CD46 isoforms. In contrast, four novel isoforms (os1-4) translated as intact proteins were additionally detected in each otosclerotic specimen. The study herein presented provides evidence for the otosclerosis-associated expression pattern of CD46. This finding might explain the organ-specific, virus-associated and autoimmune-inflammatory pathogenesis of otosclerosis. Regarding our current knowledge, this is the first report that confirms the presence of four new disease-specific protein variants of CD46.
Insights
Researchers discovered four novel CD46 protein variants in otosclerotic stapes footplates, suggesting a link between these specific CD46 isoforms and the disease's pathogenesis. This finding may clarify otosclerosis's organ-specific, virus-associated, and autoimmune inflammatory nature.
Area of Science:
- Otolaryngology
- Molecular Biology
- Immunology
Background:
- Otosclerosis, an organ-specific disease, is suspected to have a genetic predisposition and is associated with the measles virus.
- The measles virus receptor, CD46 (also known as Membrane cofactor protein), has a unique coexpression pattern of splicing isoforms in the human otic capsule, implicated in otosclerosis.
Purpose of the Study:
- To identify specific CD46 (Membrane cofactor protein) isoforms involved in the pathogenesis of otosclerosis.
- To investigate the expression patterns of CD46 isoforms in human stapes footplates from patients with and without otosclerosis.
Main Methods:
- Histopathological examination of 109 human stapes footplates (otosclerotic, non-otosclerotic, and normal).
- CD46-specific Western blot analysis to detect and characterize CD46 protein isoforms.
Main Results:
- Normal and non-otosclerotic stapes footplates consistently expressed conventional CD46 isoforms (c, d, e, f, l).
- Four novel CD46 isoforms (os1-4), translated as intact proteins, were additionally detected in all otosclerotic specimens.
- This study is the first to report the presence of these four novel, disease-specific CD46 protein variants in otosclerosis.
Conclusions:
- The study provides evidence for an otosclerosis-associated expression pattern of CD46.
- The identification of novel CD46 isoforms may explain the organ-specific, virus-associated, and autoimmune-inflammatory pathogenesis of otosclerosis.
