Document Detail


Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.
MedLine Citation:
PMID:  22185901     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE OF REVIEW: Usher syndrome (USH) is the most prevalent cause of hereditary deafness-blindness in humans. In this review, we pinpoint new insights regarding the molecular mechanisms defective in this syndrome, its molecular diagnosis and prospective therapies.
RECENT FINDINGS: Animal models wherein USH proteins were targeted at different maturation stages of the auditory hair cells have been engineered, shedding new light on the development and functioning of the hair bundle, the sound receptive structure. Improved protocols and guidelines for early molecular diagnosis of USH (USH genotyping microarrays, otochips and complete Sanger sequencing of the 366 coding exons of identified USH genes) have been developed. Approaches to alleviate or cure hearing and visual impairments have been initiated, leading to various degrees of functional rescuing.
SUMMARY: Whereas the mechanisms underlying hearing impairment in USH patients are being unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair bundle and the functioning of the mechanoelectrical transduction machinery, the mechanisms underlying the retinal defects are still unclear. Efforts to improve clinical diagnosis have been successful. Yet, despite some encouraging results, further development of therapeutic approaches is necessary to ultimately treat this dual sensory defect.
Authors:
Crystel Bonnet; Aziz El-Amraoui
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Current opinion in neurology     Volume:  25     ISSN:  1473-6551     ISO Abbreviation:  Curr. Opin. Neurol.     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-01-06     Completed Date:  2012-04-23     Revised Date:  2013-01-18    
Medline Journal Info:
Nlm Unique ID:  9319162     Medline TA:  Curr Opin Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  42-9     Citation Subset:  IM    
Affiliation:
Institut de la Vision, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Animals
Disease Models, Animal
Extracellular Matrix Proteins / genetics,  metabolism
Hair Cells, Auditory / metabolism,  ultrastructure
Humans
Mechanotransduction, Cellular / physiology
Membrane Proteins / genetics,  metabolism
Myosins / genetics,  metabolism
Nerve Tissue Proteins / genetics,  metabolism
Protein Isoforms / genetics,  metabolism
Usher Syndromes / genetics,  pathology,  physiopathology*,  therapy*
Chemical
Reg. No./Substance:
0/CLRN1 protein, human; 0/Extracellular Matrix Proteins; 0/Membrane Proteins; 0/Nerve Tissue Proteins; 0/Protein Isoforms; 0/USH2A protein, human; EC 3.6.4.1/Myosins; EC 3.6.4.1/myosin VIIa

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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