Abstract
Hereditary deafness is genetically heterogeneous such that mutations of many different genes can cause hearing loss. This review focuses on the evidence and implications that several of these deafness genes encode actin-interacting proteins or actin itself. There is a growing appreciation of the contribution of the actin interactome in stereocilia development, maintenance, mechanotransduction and malfunction of the auditory system.
Published by Elsevier B.V.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
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Review
MeSH terms
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Actins / chemistry
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Actins / genetics
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Actins / metabolism*
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Animals
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Genetic Predisposition to Disease
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Hair Cells, Auditory / metabolism*
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Hearing Loss / genetics
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Hearing Loss / metabolism*
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Hearing Loss / physiopathology
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Heredity
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Humans
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Mechanotransduction, Cellular
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Models, Molecular
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Phenotype
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Protein Conformation
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Stereocilia / metabolism
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Structure-Activity Relationship