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Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

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  • معلومة اضافية
    • المصدر:
      Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
    • بيانات النشر:
      Publication: : Washington, DC : American Association for the Advancement of Science
      Original Publication: New York, N.Y. : [s.n.] 1880-
    • الموضوع:
      Genetic Therapy/*methods ; Muscle Proteins/*genetics ; Muscle, Skeletal/*innervation ; Muscular Dystrophies, Limb-Girdle/*pathology ; Muscular Dystrophies, Limb-Girdle/*therapy ; Neuromuscular Junction/*pathology; Animals ; Dependovirus ; Disease Models, Animal ; Female ; Genetic Vectors/administration & dosage ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Muscle, Skeletal/physiopathology ; Muscular Dystrophies, Limb-Girdle/genetics
    • نبذة مختصرة :
      The neuromuscular junction (NMJ) is the synapse between a motor neuron and skeletal muscle. Defects in NMJ transmission cause muscle weakness, termed myasthenia. The muscle protein Dok-7 is essential for activation of the receptor kinase MuSK, which governs NMJ formation, and DOK7 mutations underlie familial limb-girdle myasthenia (DOK7 myasthenia), a neuromuscular disease characterized by small NMJs. Here, we show in a mouse model of DOK7 myasthenia that therapeutic administration of an adeno-associated virus (AAV) vector encoding the human DOK7 gene resulted in an enlargement of NMJs and substantial increases in muscle strength and life span. When applied to model mice of another neuromuscular disorder, autosomal dominant Emery-Dreifuss muscular dystrophy, DOK7 gene therapy likewise resulted in enlargement of NMJs as well as positive effects on motor activity and life span. These results suggest that therapies aimed at enlarging the NMJ may be useful for a range of neuromuscular disorders.
      (Copyright © 2014, American Association for the Advancement of Science.)
    • Comments:
      Comment in: Nat Rev Neurosci. 2014 Nov;15(11):698-9. doi: 10.1038/nrn3847. (PMID: 25301356)
    • Grant Information:
      MR/M006824/1 United Kingdom MRC_ Medical Research Council
    • الرقم المعرف:
      0 (DOK7 protein, human)
      0 (Dok-7 protein, mouse)
      0 (Muscle Proteins)
    • الموضوع:
      Date Created: 20140920 Date Completed: 20141028 Latest Revision: 20220129
    • الموضوع:
      20250114
    • الرقم المعرف:
      10.1126/science.1250744
    • الرقم المعرف:
      25237101