Why the study?
To determine the genetic and epigenetic factors and regulatory proteins governing DUX4 expression in FSHD skeletal muscle, focusing on its transcripts and low expression.
This review provides an overview of the regulatory mechanisms of DUX4 expression in FSHD, which is critical for understanding the disease pathogenesis.
Facioscapulohumeral dystrophy (FSHD) is the most frequent muscular disease in adults. FSHD is characterized by a weakness and atrophy of a specific set of muscles located in the face, the shoulder, and the upper arms. FSHD patients may present different genetic defects, but they all present epigenetic alterations of the D4Z4 array located on the subtelomeric part of chromosome 4, leading to chromatin relaxation and, ultimately, to the aberrant expression of one gene called DUX4. Once expressed, DUX4 triggers a cascade of deleterious events, eventually leading to muscle dysfunction and cell death. Here, we review studies on DUX4 expression in skeletal muscle to determine the genetic/epigenetic factors and regulatory proteins governing DUX4 expression, with particular attention to the different transcripts and their very low expression in muscle.
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Sidlauskaite et al. (2020) studied this question.
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