Vascular defects and sensorineural deafness in a mouse model of Norrie disease.
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.
Rehm
Heidi L
HL
Neurosurgery Service, Massachusetts General Hospital, Boston, Massachusetts 02114, Harvard Medical School, Boston, Massachusetts 02115, USA.
Zhang
Duan-Sun
DS
Brown
M Christian
MC
Burgess
Barbara
B
Halpin
Chris
C
Berger
Wolfgang
W
Morton
Cynthia C
CC
Corey
David P
DP
Chen
Zheng-Yi
ZY
D000161:Acoustic Stimulation; D000328:Adult; D000818:Animals; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D001766:Blindness / Q000235:genetics; D001808:Blood Vessels / Q000473:pathology*; D003051:Cochlea / Q000098:blood supply / Q000473:pathology / Q000503:physiopathology; D004195:Disease Models, Animal; D018450:Disease Progression; D016057:Evoked Potentials, Auditory, Brain Stem; D005136:Eye Proteins / Q000235:genetics; D005456:Fluorescent Dyes; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D051379:Mice; D018345:Mice, Knockout; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics; D010641:Phenotype; D012160:Retina / Q000473:pathology; D013316:Stria Vascularis / Q000473:pathology; D013577:Syndrome; D014724:Vestibular Function Tests; D014960:X Chromosome / Q000235:genetics
D005136:Eye Proteins; D005456:Fluorescent Dyes; C081848:NDP protein, human; C489916:Ndph protein, mouse; D009419:Nerve Tissue Proteins