Posted by Friends of FSH Research on May 16, 2024
Report by Dr. Rajanikanth Vangipurapu
See also Uncovering the genetic drivers and suppressors of DUX4 in FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is caused by mutations that turn on the toxic DUX4 gene in skeletal muscle which causes muscle degeneration. To develop therapies for FSHD, there are three possible approaches that can be executed 1) Direct DUX4 suppression 2) Suppressing the DUX4 activators 3) derepressing the repressor. From the patient's point of view, any approach that improves their daily life activities would be beneficial. The cellular mechanisms that turn on DUX4 are poorly understood, hence a comprehensive understanding of DUX4 gene regulation would be beneficial for better therapies and will facilitate strategic planning for the upcoming clinical trials. The dCas9-APEX approach allowed to identify some key regulatory elements that are involved in DUX4 activation, which in turn, could be potential druggable targets.
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