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NachrichtenLexikonProtokolleBücherForenDonnerstag, 2. Oktober 2014 

Light shed on vision and hearing disorders

16.12.2002 - (idw) EMBO - European Molecular Biology Organization

The most common hereditary condition that affects both hearing and vision is Usher Syndrome (USH). In the next issue of The EMBO Journal, scientists at the Institut Pasteur report on studies that have established the first link between Myosin VIIa, Cadherin 23 and Harmonin b. These three proteins were previously known to be involved in the disease, but mutations in them had only been found in separate groups of patients.

In this report, the team of Christine Petit demonstrates that these proteins function together to shape and maintain highly specialized structures at the tips of the sensory cells of the inner ear. It is precisely these structures that are essential for hearing, but which are defective in patients with Usher Syndrome.

Batiste Boeda, Aziz El-Amraoui, Amel Bahloul, Richard Goodyear, Laurent Daviet, Stephane Blanchard, Isabelle Perfettini, Karl R.Fath, Spencer Shorte, Jan Reiners, Anne Houdusse, Pierre Legrain, Uwe Wolfrum, Guy Richardson and Christine Petit
Myosin VIIa, harmonin, and cadherin 23, three Usher I gene products cooperate to shape the sensory hair cell bundle
EMBO Journal 21(24):6689-6699 (2002).

For full article (PDF contact): Ellen.Peerenboom@embo.org

Contact: Dr Christine Petit, tel +33 1 4568 8850/8890, fax +33 1 4567 6978, e-mail cpetit@pasteur.fr
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