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RSS FeedsIJMS, Vol. 21, Pages 729: DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy (International Journal of Molecular Sciences)

 
 

22 january 2020 14:02:41

 
IJMS, Vol. 21, Pages 729: DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy (International Journal of Molecular Sciences)
 


Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder characterized by asymmetric, progressive muscle weakness and degeneration. Patients display widely variable disease onset and severity, and sometimes present with extra-muscular symptoms. There is a consensus that FSHD is caused by the aberrant production of the double homeobox protein 4 (DUX4) transcription factor in skeletal muscle. DUX4 is normally expressed during early embryonic development, and is then effectively silenced in all tissues except the testis and thymus. Its reactivation in skeletal muscle disrupts numerous signalling pathways that mostly converge on cell death. Here, we review studies on DUX4-affected pathways in skeletal muscle and provide insights into how understanding these could help explain the unique pathogenesis of FSHD.


 
188 viewsCategory: Biochemistry, Biophysics, Molecular Biology
 
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