CPD Gene Mutations: Cause of Rare Hearing Loss Revealed
- An international team of researchers has discovered a crucial role for mutations in a gene known as CPD in a rare form of congenital hearing loss.
- "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...
- Rong Grace zhai, PhD, lead author, Jack Miller Professor for the Study of Neurological Diseases of Neurology at UChicago
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CPD Gene Mutations Identified as Cause of Rare Congenital Hearing Loss
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The Link Between CPD and Hearing loss
An international team of researchers has discovered a crucial role for mutations in a gene known as CPD in a rare form of congenital hearing loss. Scientists from the University of Chicago, the University of Miami, and several institutions in Türkiye published their findings in the Journal of Clinical Investigation, demonstrating how this gene – typically associated with altering proteins – affects the inner ear. The team also identified two potential approaches to treating 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.”
Rong Grace zhai, PhD, lead author, Jack Miller Professor for the Study of Neurological Diseases of Neurology at UChicago
The study initially focused on individuals with a rare combination of mutations to the CPD gene. Though, there could be broader implications if single mutations are linked to age-related hearing loss.
researchers initially focused on the CPD gene after identifying a distinct combination of mutations in three unrelated families from Türkiye with a congenital form of deafness known as sensorineural hearing loss, or SNHL. This condition is hereditary and usually diagnosed in early childhood, causing permanent hearing loss. While hearing might potentially be improved with hearing aids and cochlear implants,there is currently no medical treatment available for the condition itself.
Analysis of a genetic database revealed that other individuals with CPD mutations also exhibited signs of early onset hearing loss.
How CPD Mutations Impact Hearing: arginine Depletion and Sensory Cell Vulnerability
to understand how the CPD gene influences hearing, the researchers conducted a mouse study. Normally, the CPD gene encodes an enzyme that produces the amino acid arginine, which in turn produces nitric oxide – an important neurotransmitter that helps send signals through the nervous system. The study revealed that CPD mutations lead to arginine depletion in the inner ear.
Specifically, the researchers found that sensory cells in the inner ear are particularly vulnerable to arginine depletion. These cells, crucial for converting sound vibrations into electrical signals the brain can interpret, require arginine for proper function. Without sufficient arginine, these cells become damaged and die, leading to hearing loss.
Potential Therapeutic Approaches
The research team identified two potential therapeutic strategies to address the hearing loss caused by CPD mutations:
- Arginine Supplementation: Directly providing arginine to the inner ear could potentially restore levels and protect sensory cells.
- Nitric Oxide Donors: Administering compounds that release nitric oxide could bypass the need for arginine production and maintain signaling pathways.
Further research is needed to determine the efficacy and safety of these approaches in humans.