Cellular and animal models for facioscapulohumeral muscular dystrophy
نویسندگان
چکیده
منابع مشابه
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and allows transcription of the DUX4 gene. DUX...
متن کاملp53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically dominant myopathy caused by mutations that disrupt repression of the normally silent DUX4 gene, which encodes a transcription factor that has been shown to interfere with myogenesis when misexpressed at very low levels in myoblasts and to cause cell death when overexpressed at high levels. A previous report using adeno-associated vi...
متن کاملEarly onset facioscapulohumeral muscular dystrophy.
We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclud...
متن کاملMammalian animal models for Duchenne muscular dystrophy.
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease that affects boys and leads to early death. In the quest for new treatments that improve the quality of life and in the search for a possible definitive cure, the use of animal models plays undoubtedly an important role. Therefore, a number of different mammalian models for DMD have been described. Much knowledge on the molecula...
متن کاملFacioscapulohumeral muscular dystrophy and DUX4: breaking
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHDI has an unusual pathogenic mecha nism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chro mosome 4q. Recent studies provide compelling evi dence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then epigenetically silenced in somatie t...
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ژورنال
عنوان ژورنال: Disease Models & Mechanisms
سال: 2020
ISSN: 1754-8411,1754-8403
DOI: 10.1242/dmm.046904