Scientists identified mutations in the CPD gene as a cause of congenital hearing loss, showing that they damage the inner ear’s sensory cells by disrupting arginine and nitric oxide signaling.
Experiments in animals revealed that arginine and sildenafil (Viagra) could help repair these pathways and restore hearing function.
Mutations in a gene called CPD have been found to play a key role in a rare inherited form of hearing loss, according to a new international study. Researchers from the University of Chicago, the University of Miami, and several institutions in Turkiye published their findings in the Journal of Clinical Investigation.
The study revealed that the CPD gene, best known for modifying proteins, also influences how the inner ear functions. Importantly, the scientists identified two potential ways to treat the condition.
“This study is exciting because we found a new gene mutation that’s linked to deafness, and more importantly we have a therapeutic target that can actually mitigate this condition,” said lead author Rong Grace Zhai, PhD, Jack Miller Professor for the Study of Neurological Diseases of Neurology at UChicago. Although the study focused on individuals with a rare combination of mutations to the CPD gene, there could be broader implications if single mutations are linked to age-related hearing loss, she added.
