Connexins of the inner ear and the skin: from biophysics to translational opportunities

Il 04/04/2018 ore 14.30 - 15.30

Sala Conferenze CNR Area della Ricerca Na1, Via P. Castellino, 111 80131 Napoli

Prof. Fabio Mammano, from the Institute of cell biology and neurobiology, International Campus "A. Buzzati-Traverso" - Cnr, Monterotondo (Rome), will give a seminar on the role of connexins in hearing impairment.
The GJB2 gene has an estimated mutation prevalence of 3% in the general population. The encoded membrane protein, connexin 26 (Cx26) is expressed in the inner ear and the skin, together with the closely related connexin 30 (Cx30).
Most mutations of these connexins cause nonsyndromic forms of hearing impairment, which are prevalently autosomal recessive and together affect ~1 in 2000 newborn children.
In addition, a certain number of dominant mutations cause syndromic forms associated with an array of rare skin diseases, some of which can be devastating.
Non-syndromic hearing impairment is mainly associated with mutations that cause complete loss of protein function, whereas most syndromic forms are causally linked to hyperactive mutant connexin channels.
Both classes of mutations represent highly challenging and virtually uncharted translational opportunities. Prof. Mammano will discuss the etiopathogenesis of hearing loss linked to connexin mutations and highlight our attempts to treat relevant mouse models using recombinant adeno associated viral vectors with high tropism for inner ear non-sensory cells. He will also present a promising approach to treat skin disorders by contrasting channel hyperactivity with fully human monoclonal recombinant antibodies selected from a phage library.

Organizzato da:
CNR - Istituto di biochimica delle proteine

Referente organizzativo:
Alberto Luini
CNR - Istituto di biochimica delle proteine
Via P. Castellino, 111 - 80131 Napoli
a.luini@ibp.cnr.it
081/6132722

Modalità di accesso: ingresso libero