Posted innews Otorhinolaryngology
Carboxypeptidase D (CPD) Mutations Cause Congenital Hearing Loss — and Point to an Actionable NO/cGMP Pathway
A JCI study links recessive CPD missense variants to congenital deafness, defines a pathogenic mechanism through impaired arginine–NO–cGMP signaling with ER stress and apoptosis, and shows rescue in models with arginine or sildenafil — offering a potential repurposing route for therapy.

