P.50An in situ hybridization-based method for detecting DUX4 RNA expression in vitro

Facioscapulohumeral muscular dystrophy (FSHD) is among the most common forms of muscular dystrophy. FSHD is caused by aberrant expression of the toxic DUX4 gene in muscle. Detecting endogenous DUX4 in patient tissue using conventional methods can be challenging, due to the low level of DUX4 expression. In addition to impacting basic research, the difficulty to reliably detect DUX4 expression could pose challenging for future prospective clinical trials involving DUX4 inhibition therapies, where DUX4 levels would be useful as a therapeutic outcome measure.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research