MRI validation of a transcriptional cascade propagation model in FSHD muscular dystrophy
Barbara Janssen 1 , Nicoline Voet 2 , Alexander Geurts 2 , George Padberg 3 , Baziel van Engelen 3 , and Arend Heerschap 1
Radiology, Radboud University Medical
Center, Nijmegen, Gelderland, Netherlands,
Radboud Univeristy Medical Center, Nijmegen, Gelderland,
Neurology, Radboud Univeristy
Medical Center, Nijmegen, Gelderland, Netherlands
DUX4 expression by a genetic abnormality is believed to
cause fascioscapulohumeral muscular dystrophy (FSHD),
however the mechanism leading to muscle pathology
remains unknown. We present MRI findings that validate a
dynamic model with DUX4 initiation and propagation of a
transcriptional cascade in myofibers. The majority of
muscles in patients are either normal or highly fat
infiltrated, indicating an abrupt transition to a
diseased state, which agrees with clinical observation.
As predicted by the model we identified a minor muscle
fraction with intermediate fatty infiltration, which
occurs as a longitudinal muscular gradient and shows
fast progression of the fatty infiltration.
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