Breakthrough Enzyme Therapy Reverses Hearing Loss in Mice with Rare Bone Disorder
A novel enzyme therapy has successfully reversed hearing loss in mouse models of ENPP1 deficiency, offering hope for future treatments of this devastating genetic disorder.
Scientists have made significant progress in treating a rare genetic bone disorder called ENPP1 deficiency, which often leads to hearing loss. In recent research, they demonstrated that a specially designed enzyme therapy can fully restore hearing in mouse models affected by this condition. ENPP1 deficiency impairs the enzyme crucial for proper mineralization of bones and blood vessels, resulting in complications such as skeletal abnormalities, arterial calcium deposits, and in many cases, hearing impairment. This disorder is particularly severe in infants, with half of the affected newborns dying within their first six months. Those who survive frequently face lifelong challenges, including hearing loss that can impact social interactions and educational development.
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