Vascular defects and sensorineural deafness in a mouse model of Norrie disease.

Abstract	Norrie disease is an X-linked recessive syndrome of blindness, deafness, and mental retardation. A knock-out mouse model with an Ndp gene disruption was studied. We examined the hearing phenotype, including audiological, histological, and vascular evaluations. As is seen in humans, the mice had progressive hearing loss leading to profound deafness. The primary lesion was localized to the stria vascularis, which houses the main vasculature of the cochlea. Fluorescent dyes showed an abnormal vasculature in this region and eventual loss of two-thirds of the vessels. We propose that one of the principal functions of norrin in the ear is to regulate the interaction of the cochlea with its vasculature.
Authors	Heidi L Rehm, Duan-Sun Zhang, M Christian Brown, Barbara Burgess, Chris Halpin, Wolfgang Berger, Cynthia C Morton, David P Corey, Zheng-Yi Chen
Journal	The Journal of neuroscience : the official journal of the Society for Neuroscience (J Neurosci) Vol. 22 Issue 11 Pg. 4286-92 (Jun 01 2002) ISSN: 1529-2401 [Electronic] United States
PMID	12040033 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References	Eye Proteins Fluorescent Dyes NDP protein, human Ndph protein, mouse Nerve Tissue Proteins
Topics	Acoustic Stimulation Adult Animals Audiometry, Pure-Tone Auditory Threshold Blindness (genetics) Blood Vessels (pathology) Cochlea (blood supply, pathology, physiopathology) Disease Models, Animal Disease Progression Evoked Potentials, Auditory, Brain Stem Eye Proteins (genetics) Fluorescent Dyes Genes, Recessive Hearing Loss, Sensorineural (genetics, pathology, physiopathology) Humans Intellectual Disability (genetics) Mice Mice, Knockout Nerve Tissue Proteins (deficiency, genetics) Phenotype Retina (pathology) Stria Vascularis (pathology) Syndrome Vestibular Function Tests X Chromosome (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!