Publications by authors named "Valda Pauzuolyte"
Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.
Proc Natl Acad Sci U S A
December 2024
Variants in the gene cause Norrie disease, a severe dual-sensory disorder characterized by congenital blindness due to disrupted retinal vascular development and progressive hearing loss accompanied by sensory hair cell death. encodes the secreted signaling molecule norrin. The role of norrin in the cochlea is incompletely understood.
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- Deafness impacts 5% of the global population, and current treatments for genetic hearing loss are largely lacking, particularly for disorders like Norrie disease, which is caused by mutations in the NDP gene and leads to dual sensory deprivation.
- Researchers utilized a Norrie disease mouse model to test a gene therapy approach, delivering the human NDP cDNA through an adeno-associated viral vector (AAV)9 at various developmental stages.
- Neonatal treatment showed promising results, preventing cochlear hair cell death and restoring both auditory function and retinal health, indicating potential for effective clinical therapy for Norrie disease-related hearing loss.
Article Synopsis
- - Norrie disease, caused by mutations in the NDP gene, leads to congenital blindness and later hearing loss, making it crucial to protect patients' hearing to maintain their quality of life.
- - This study investigated cochlear structure and function in both affected humans and juvenile Ndp-mutant mice, revealing that cochlear vascular issues occur earlier than previously thought, triggering subsequent hearing loss and hair cell death.
- - The findings highlight the importance of early intervention in Norrie disease and establish Ndp-mutant mice as a valuable model for testing new therapies aimed at preventing hearing loss in affected individuals.
Age-related macular degeneration (AMD) is a progressive disease of the retinal pigment epithelium (RPE) and the retina leading to loss of central vision. Polymorphisms in genes involved in lipid metabolism, including the ATP-binding cassette transporter A1 (), have been associated with AMD risk. However, the significance of retinal lipid handling for AMD pathogenesis remains elusive.
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