Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Department of Neurology and.
J Clin Invest. 2020 May 1;130(5):2186-2188. doi: 10.1172/JCI136133.
Facioscapulohumeral muscular dystrophy (FSHD) results from expression of the full-length double homeobox 4 (DUX4-FL) retrogene in skeletal muscle. However, even in cases of severe FSHD the presence of DUX4 is barely detectable. In this issue of the JCI, Bosnakovski et al. used an inducible, muscle-specific human DUX4 to reproduce the low-level, sporadic DUX4 expression of human FSHD muscle as well the myopathology seen in human FSHD disease. Notably, dysregulated fibroadipogenic progenitors accumulated in affected muscles, thus providing a mechanism for the replacement of muscle by fibrosis and fat.
面肩肱型肌营养不良症（FSHD）是由全长双同源盒 4 （DUX4-FL）返座基因在骨骼肌中的表达引起的。然而，即使在严重的 FSHD 病例中，也几乎检测不到 DUX4 的存在。在本期 JCI 中，Bosnakovski 等人利用诱导型、肌肉特异性的人类 DUX4 重现了人类 FSHD 肌肉中低水平、散发性的 DUX4 表达以及人类 FSHD 疾病中所见的肌病。值得注意的是，失调的纤维脂肪祖细胞在受影响的肌肉中积累，从而为肌肉被纤维化和脂肪替代提供了一种机制。
