Researchers have identified the mechanism that can lead to deafness in the rare syndrome, Norrie disease, which may lead to promising treatment targets for the incurable disease and other forms of profound hearing loss.

They also found that a pathway believed to be vital for hair cell regeneration, known as the Wnt pathway, could mimic the effects of NDP by restoring hearing in deaf mice with Norrie Syndrome. This method and another technique that overexpressed NDP in nearby cells were both able to prevent and rescue hearing loss.

The new discoveries, published in the September 28 issue of PNAS, may lead to promising treatment targets for the incurable disease and other forms of profound hearing loss.

Norrie disease is an inherited disorder caused by more than 100 different mutations in the NDP gene that can lead to blindness, deafness and intellectual disability in males. While infants with Norrie disease are born blind, their hearing is typically normal at birth and progressively deteriorates to profound loss by an average age of 12 years. The hearing loss can be particularly devastating for the families with an affected child.

Previously, researchers had thought that vascular issues caused by Norrie disease are what led to vision and hearing loss. However, the new findings suggest a lack of NDP is what causes hair cells to deteriorate and ultimately leads to deafness.

By learning more about the role of this protein in hair cell loss, the researchers were able to target two pathways that effectively prevented and reversed hearing loss in mouse models with Norrie disease.

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