Abstract
Usher syndrome (USH) is a neurosensory disorder affecting both hearing and vision in humans. Linkage studies of families of USH patients, studies in animals, and characterization of purified proteins have provided insight into the molecular mechanisms of hearing. To date, 11 USH proteins have been identified, and evidence suggests that all of them are crucial for the function of the mechanosensory cells of the inner ear, the hair cells. Most USH proteins are localized to the stereocilia of the hair cells, where mechano-electrical transduction (MET) of sound-induced vibrations occurs. Therefore, elucidation of the functions of USH proteins in the stereocilia is a prerequisite to understanding the exact mechanisms of MET.
Keywords:
CIB2; Usher syndrome; calcium buffer; inner ear; retinitis pigmentosa.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics
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Adaptor Proteins, Signal Transducing / metabolism
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Animals
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Calcium / metabolism
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Calcium-Binding Proteins / genetics
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Calcium-Binding Proteins / metabolism
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Cell Cycle Proteins
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Cytoskeletal Proteins
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Ear, Inner / metabolism*
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Ear, Inner / pathology
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Ear, Inner / physiopathology
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Hair Cells, Auditory / metabolism*
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Hair Cells, Auditory / pathology
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Humans
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Mechanotransduction, Cellular / genetics
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Mechanotransduction, Cellular / physiology
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Membrane Proteins / genetics
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Membrane Proteins / metabolism
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Models, Biological
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Mutation
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Myosin VIIa
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Myosins / genetics
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Myosins / metabolism
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Nerve Tissue Proteins / genetics
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Nerve Tissue Proteins / metabolism
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Stereocilia / metabolism*
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Stereocilia / pathology
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Usher Syndromes / genetics
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Usher Syndromes / metabolism*
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Usher Syndromes / physiopathology
Substances
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Adaptor Proteins, Signal Transducing
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CIB2 protein, human
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Calcium-Binding Proteins
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Cell Cycle Proteins
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Cytoskeletal Proteins
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MYO7A protein, human
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Membrane Proteins
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Myosin VIIa
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Nerve Tissue Proteins
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USH1C protein, human
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USH1G protein, human
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WHRN protein, human
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Myosins
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Calcium