[HTML][HTML] Facioscapulohumeral muscular dystrophy

SM Van Der Maarel, RR Frants, GW Padberg - Biochimica et Biophysica …, 2007 - Elsevier
SM Van Der Maarel, RR Frants, GW Padberg
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 2007Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic
events following contraction of the polymorphic macrosatellite repeat D4Z4 in the
subtelomere of chromosome 4q. Currently, the central issue is whether immediate
downstream effects are local (ie, at chromosome 4q) or global (genome-wide) and there is
evidence for both scenarios. Currently, there is no therapy for FSHD, mostly because of our
lack of understanding of the primary pathogenic process in FSHD muscle. Clinical trials …
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both scenarios. Currently, there is no therapy for FSHD, mostly because of our lack of understanding of the primary pathogenic process in FSHD muscle. Clinical trials based on suppression of inflammatory reactions or increasing muscle mass by drugs or training have been disappointing. A recent, probably the first evidence-based pilot trial to revert epigenetic changes did also not provide grounds for a larger clinical study. Clearly, better disease models need to be developed to identify and test novel intervention strategies to eventually improve the quality of life for patients with FSHD.
Elsevier