Hair Cell CaV1.3 Channelopathies: Disease Mechanisms and Preclinical Development of Gene Therapeutic Approaches (A02)

• Subject Area: Cognitive, Systems and Behavioural Neurobiology ; Experimental Models for the Understanding of Nervous System Diseases ; Otolaryngology, Phoniatrics and Audiology ; Molecular Biology and Physiology of Neurons and Glial Cells
• Term: since 2025
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 528760423

Ca2+-influx through voltage-gated CaV1.3 channels mediates synaptic transmission at the first synapse in the auditory pathway. The activity of CaV1.3 channels is regulated by a set of factors, including calmodulin and calcium-binding proteins (CaBPs). Pathological mutations affecting CaBP2 or the channel itself have been identified to cause non-syndromic or syndromic hearing impairment in patients. We will combine biochemistry and structural biology, disease modeling in mice and electrophysiology to 1) study the structure and function of CaV1.3 and CaBPs in healthy and diseased ears and 2) develop gene therapeutic approaches to treat CaBP2-related channelopathy.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1690: Disease Mechanisms and Functional Restoration of Sensory and Motor Systems
• Applicant Institution: Georg-August-Universität Göttingen
• Project Heads: Professorin Dr. Tina Pangrsic Vilfan; Eri Sakata, Ph.D.