The role of amyloid β in the pathological mechanism of GNE myopathy View Full Text


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Article Info

DATE

2022-07-29

AUTHORS

Tongtong Zhang, Ren Shang, Jing Miao

ABSTRACT

GNE myopathy is a hereditary muscle disorder characterized by muscle atrophy and weakness initially involving the lower distal extremities. The treatment of GNE myopathy mainly focuses on a sialic acid deficiency caused by a mutation in the GNE gene, but it has not achieved the expected effect. The main pathological features of GNE myopathy are myofiber atrophy and rimmed vacuoles, including accumulation of amyloid β, which is mainly found in atrophic muscle fibers. Although the role of amyloid β and other misfolded proteins on the nervous system has been widely recognized, the cause and process of the formation of amyloid β in the pathological process of GNE myopathy are unclear. In addition, amyloid β has been reported to be linked to quality control mechanisms of proteins, such as molecular chaperones, the ubiquitin–proteasome system, and the autophagy-lysosome system. Herein, we summarize the possible reasons for amyloid β deposition and illustrate amyloid β-mediated events in the cells and their role in muscle atrophy in GNE myopathy. This review represents an overview of amyloid β and GNE myopathy that could help identify a potential mechanism and thereby a plausible therapeutic for the disease. More... »

PAGES

1-13

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    http://dx.doi.org/10.1007/s10072-022-06301-7

    DIMENSIONS

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    PUBMED

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    61 features
    62 fibers
    63 formation
    64 genes
    65 hereditary muscle disorders
    66 lower distal extremity
    67 main pathological features
    68 mechanism
    69 misfolded proteins
    70 molecular chaperones
    71 muscle atrophy
    72 muscle disorders
    73 muscle fibers
    74 mutations
    75 myofiber atrophy
    76 myopathy
    77 nervous system
    78 overview
    79 pathological features
    80 pathological mechanisms
    81 pathological processes
    82 plausible therapeutic
    83 possible reasons
    84 potential mechanisms
    85 process
    86 protein
    87 quality control mechanisms
    88 reasons
    89 review
    90 role
    91 sialic acid deficiency
    92 system
    93 therapeutics
    94 treatment
    95 ubiquitin-proteasome system
    96 vacuoles
    97 weakness
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