This paper investigates a potential treatment for facioscapulohumeral muscular dystrophy (FSHD), a genetic disorder caused by the improper expression of the DUX4 gene in muscles, leading to muscle weakness and deterioration. Currently, there is no molecular therapy to halt or slow the progression of FSHD. The researchers tested an antisense oligonucleotide (ASO) that targets and reduces the DUX4 transcript in a mouse model (ACTA1-MCM;FLExDUX4) that mimics FSHD. The ASO treatment, …

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  Personal take on this article: Facioscapulohumeral muscular dystrophy (FSHD) is a progressive genetic disorder that primarily affects muscles of the face, shoulder girdle, and upper arms, with the potential to cause severe muscle atrophy over time. The disease is characterized by the aberrant expression of the DUX4 gene due to compromised epigenetic repression of the D4Z4 array, leading to toxic effects in muscle tissue. FSHD can be categorized into …

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