Seminario INGEBI

Martes 26 de Noviembre 13:20hs

Dr. Aziz El-Amraoui

Progressif Sensory Disorders, Pathophysiology and Therapy Unit, Institut Pasteur, INSERM UMRS1120, Sorbonne Universités

Disease mechanisms & therapies in progressive hearing loss: insights from tetraspan-like proteins

Progressive hearing impairment, the most frequent sensory deficit, causes communication difficulties, often associated with social isolation, depression and reduced physical and cognitive function, with a dramatic economic impact on healthcare systems worldwide.

Whatever the cause, genetics, environmental factors, or aging; the pathology of hearing deterioration often includes irreversible damage of sensory hair cells and/or the associated auditory primary neurons: the cellular targets we are focusing on in the team.

Recently, we characterized the role of clarin-1, a tetraspan-like protein whose defect is responsible for post-lingual hearing loss in humans, combined with vision loss.

In a mutagenesis ageing screen cartried out at MRC Harwell (M. Bowl, S. Brown, UK), a newly identified mutation was observed in clarin-2 encoding gene also causing hearing impairment, supporting a key role of this clarin family in the inner ear.

Using the two clarin deaf mice as model systems, we bring together a wide spectrum of molecular, cellular and physiological experimental approaches to i) better understand the related-disease mechanisms and relationship with environment, and iii) devise and validate solutions for the underlying pathogenic processes.