Impact of the Usher syndrome on olfaction

Fabian Jansen, Benjamin Kalbe, Paul Scholz, Marta Mikosz, Kirsten A. Wunderlich, Stefan Kurtenbach, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Hanns Hatt, Sabrina Osterloh

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Usher syndrome is a genetically and clinically heterogeneous disease in humans, characterized by sensorineural hearing loss, retinitis pigmentosa and vestibular dysfunction. This disease is caused by mutations in genes encoding proteins that form complex networks in different cellular compartments. Currently, it remains unclear whether the Usher proteins also form networks within the olfactory epithelium (OE). Here, we describe Usher gene expression at the mRNA and protein level in the OE of mice and showed interactions between these proteins and olfactory signaling proteins. Additionally, we analyzed the odor sensitivity of different Usher syndrome mouse models using electro-olfactogram recordings and monitored significant changes in the odor detection capabilities in mice expressing mutant Usher proteins. Furthermore, we observed changes in the expression of signaling proteins that might compensate for the Usher protein deficiency. In summary, this study provides novel insights into the presence and purpose of the Usher proteins in olfactory signal transduction.

Original languageEnglish (US)
Article numberddv490
Pages (from-to)524-533
Number of pages10
JournalHuman molecular genetics
Volume25
Issue number3
DOIs
StatePublished - Feb 1 2016
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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