دورية أكاديمية
أعرض في EDS

Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.

التفاصيل البيبلوغرافية
العنوان: Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.
المؤلفون: Ivanchenko MV; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Hathaway DM; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.; Department of Otolaryngology - Head and Neck Surgery, Harvard Medical School and Massachusetts Eye and Ear, Boston, MA, USA., Klein AJ; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Pan B; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Strelkova O; Department of Otolaryngology - Head and Neck Surgery, Harvard Medical School and Massachusetts Eye and Ear, Boston, MA, USA., De-la-Torre P; Department of Otolaryngology - Head and Neck Surgery, Harvard Medical School and Massachusetts Eye and Ear, Boston, MA, USA., Wu X; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Peters CW; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Mulhall EM; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Booth KT; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Goldstein C; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Brower J; Department of Otolaryngology - Head and Neck Surgery, Harvard Medical School and Massachusetts Eye and Ear, Boston, MA, USA., Sotomayor M; Department of Chemistry and Biochemistry, The Ohio State University, Columbus, OH, USA., Indzhykulian AA; Department of Otolaryngology - Head and Neck Surgery, Harvard Medical School and Massachusetts Eye and Ear, Boston, MA, USA., Corey DP; Department of Neurobiology, Harvard Medical School, Boston, MA, USA. david_corey@hms.harvard.edu.
المصدر: Nature communications [Nat Commun] 2023 Apr 26; Vol. 14 (1), pp. 2400. Date of Electronic Publication: 2023 Apr 26.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : Nature Pub. Group
مواضيع طبية MeSH: Ear, Inner*/metabolism , Usher Syndromes*/genetics , Usher Syndromes*/therapy, Animals ; Mice ; Cadherins/metabolism ; Hair Cells, Auditory/metabolism ; Hearing/genetics ; Cadherin Related Proteins/metabolism
مستخلص: Usher syndrome type 1 F (USH1F), caused by mutations in the protocadherin-15 gene (PCDH15), is characterized by congenital deafness, lack of balance, and progressive blindness. In hair cells, the receptor cells of the inner ear, PCDH15 is a component of tip links, fine filaments which pull open mechanosensory transduction channels. A simple gene addition therapy for USH1F is challenging because the PCDH15 coding sequence is too large for adeno-associated virus (AAV) vectors. We use rational, structure-based design to engineer mini-PCDH15s in which 3-5 of the 11 extracellular cadherin repeats are deleted, but which still bind a partner protein. Some mini-PCDH15s can fit in an AAV. An AAV encoding one of these, injected into the inner ears of mouse models of USH1F, produces a mini-PCDH15 which properly forms tip links, prevents the degeneration of hair cell bundles, and rescues hearing. Mini-PCDH15s may be a useful therapy for the deafness of USH1F.
(© 2023. The Author(s).)
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معلومات مُعتمدة: R01 DC016932 United States DC NIDCD NIH HHS; R01 DC020190 United States DC NIDCD NIH HHS; R01 DC015271 United States DC NIDCD NIH HHS; T32 GM007748 United States GM NIGMS NIH HHS; R01 DC017166 United States DC NIDCD NIH HHS
المشرفين على المادة: 0 (Cadherins)
0 (Cadherin Related Proteins)
SCR Disease Name: Usher Syndrome, Type IF
تواريخ الأحداث: Date Created: 20230426 Date Completed: 20230502 Latest Revision: 20230502
رمز التحديث: 20240829
مُعرف محوري في PubMed: PMC10133396
DOI: 10.1038/s41467-023-38038-y
PMID: 37100771
قاعدة البيانات: MEDLINE
الوصف
تدمد:2041-1723
DOI:10.1038/s41467-023-38038-y