کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1904648 1534649 2015 15 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities
چکیده انگلیسی


• Review current literature concerning USH genes, their expressions and functions
• Discuss the similarities and dissimilarities of USH proteins in various tissues
• Summarize progress in the development of treatment for USH
• Describe obstacles and gaps in our understanding of USH pathobiology

Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision loss. USH is classified into three types, based on the hearing and vestibular symptoms observed in patients. Sixteen loci have been reported to be involved in the occurrence of USH and atypical USH. Among them, twelve have been identified as causative genes and one as a modifier gene. Studies on the proteins encoded by these USH genes suggest that USH proteins interact among one another and function in multiprotein complexes in vivo. Although their exact functions remain enigmatic in the retina, USH proteins are required for the development, maintenance and function of hair bundles, which are the primary mechanosensitive structure of inner ear hair cells. Despite the unavailability of a cure, progress has been made to develop effective treatments for this disease. In this review, we focus on the most recent discoveries in the field with an emphasis on USH genes, protein complexes and functions in various tissues as well as progress toward therapeutic development for USH.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1852, Issue 3, March 2015, Pages 406–420
نویسندگان
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