Faculty Research 1990 - 1999
Pathology of the ear in murine mucopolysaccharidosis type VII. Morphologic correlates of hearing loss.
Document Type
Article
Publication Date
1994
Keywords
Ear: ra, pa, Ear-External: pa, Ear-Middle: ra, pa, Hearing-Disorders: et, ra, pa, Labyrinth: ra, pa, Mice, Mice-Mutant-Strains, Mucopolysaccharidosis-VII: co, pa, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S
First Page
438
Last Page
445
JAX Source
Lab Invest 1994 Sep;71(3):438-45
Grant
DK41082/DK/NIDDK, GM31482/GM/NIGMS, DK40163/DK/NIDDK
Abstract
BACKGROUND: Patients with mucopolysaccharidosis commonly have hearing impairment but the morphologic alterations in the ear caused by these lysosomal storage diseases are incompletely defined. EXPERIMENTAL DESIGN: We studied a murine model of mucopolysaccharidosis VII with clinical features, including conductive hearing loss and biochemical, and pathologic features similar to those seen in human mucopolysaccharidoses. Gross morphology, radiography, light and electron microscopy were used to define the pathologic alterations in the ear that correlate with auditory dysfunction in mucopolysaccharidosis VII. RESULTS: Cerumen occluded the external auditory canal and there was a severe otitis media. The bone encasing the middle and inner ear was sclerotic and opaque and the temporal bone and the ossicles and their joints contained cells distended by enlarged lysosomes. Hair cell damage and multifocal lysosomal distention in endoneural fibroblasts and spiral ganglion neurons characterized the mucopolysaccharidosis VII cochlea. CONCLUSIONS: The external auditory canal obstruction, otitis media, and ossicle articular alterations in mucopolysaccharidosis VII mice cause a conductive hearing loss. The hair cell damage and neuronal storage may contribute to sensorineural deafness. This model allows investigation of the pathophysiology of auditory dysfunction in mucopolysaccharidosis and the effects of therapies on hearing loss.
Recommended Citation
Berry CL,
Vogler C,
Galvin NJ,
Birkenmeier EH,
Sly WS.
Pathology of the ear in murine mucopolysaccharidosis type VII. Morphologic correlates of hearing loss. Lab Invest 1994 Sep;71(3):438-45