Sensorion’s GJB2-GT gene therapy development program aims to restore hearing in people living with hearing loss due to mutations in the GJB2 gene, the most common form of childhood deafness. Institut Pasteur recently established that mutations in the GJB2 gene are also found in early onset forms of severe presbycusis in adults, which appear to be monogenic types potentially treatable by gene therapy.
Connexin 26 protein role
The Connexin 26 protein, coded by the GJB2 gene, is one of 20 known connexins in humans. A hexamer of 6 proteins forms gap junctions.
Schematic representation of a gap junction – adapted from Kemperman, Hoefsloot and Cremers J R Soc Med 2002;95; 171-177
Gap Junctions are key for the intercellular exchange of molecules (miRNA, glucose, ions, etc.) hence responsible for tissue homeostasis.