Scientists discover a hidden gene mutation that causes deafness—and a way to fix it

Scientists from institutions including the University of Chicago and the University of Miami have identified a gene mutation in CPD that contributes to a rare inherited form of hearing loss. The study, published in the Journal of Clinical Investigation, reveals that CPD mutations disrupt arginine production, leading to oxidative stress and death of sensory hair cells in the inner ear. Researchers also discovered two potential treatment strategies for this condition. Although the research focused on individuals with a specific combination of CPD gene mutations, there may be broader implications if single mutations are linked to age-related hearing loss. The findings were based on experiments involving mice and genetic data from three unrelated Turkish families affected by sensorineural hearing loss.

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