P.51Identification of the DUX4-targeted miRNome from a library of 1,881 natural human miRNAs

Facioscapulohumeral muscular dystrophy (FSHD) presentation often varies in severity, rate of progression and age-of-onset, even in families with several affected relatives. Modifier genes could contribute to FSHD variability by influencing DUX4 expression and toxicity. We hypothesized that DUX4 mRNA could be a potential target of miRNAs expressed in skeletal muscles, and therefore, miRNAs could function as modifiers of FSHD severity. Using a candidate approach, we found that a natural human miRNA (mir-675) can directly inhibit DUX4 expression and counteract DUX4 pathogenicity in skeletal muscle and non-muscle cells (manuscript submitted).
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research