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The Pathologist / Issues / 2025 / November / A New Genetic Clue to Hearing Loss / Notecards
Cytology Genetics and epigenetics Biochemistry and molecular biology

A New Genetic Clue to Hearing Loss

New findings connect an enzyme gene deficiency to congenital hearing loss

11/10/2025 News 2 min read
article Full Article Summary Notecard

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  1. CPD mutations linked to congenital hearing loss.

  2. Study revealed three missense variants.

  3. Strong genetic association confirmed.

  4. Involvement of nitric oxide in cell health.

  5. Increased oxidative stress in affected fibroblasts.

  6. Structural defects in auditory organs observed in fruit flies.

  7. Potential for arginine supplementation as treatment.

  8. Importance of molecular genetics in understanding hearing loss.

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