期刊
JOURNAL OF CLINICAL MEDICINE
卷 9, 期 9, 页码 -出版社
MDPI
DOI: 10.3390/jcm9092886
关键词
FSHD; DUX4; therapy; animal models; facioscapulohumeral dystrophy; muscle
资金
- FSHD society [FSHS-22018-02]
- AFM-Telethon
- Association Francaise contre les Myopathies AFM-Telethon [22582]
- National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust
- University College London
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit asymmetric facial and humeral muscle damage, followed by lower body muscle involvement. FSHD is associated with a derepression ofDUX4gene encoded by the D4Z4 macrosatellite located on the subtelomeric part of chromosome 4. DUX4 is a highly regulated transcription factor and its expression in skeletal muscle contributes to multiple cellular toxicities and pathologies ultimately leading to muscle weakness and atrophy. Since the discovery of the FSHD candidate geneDUX4, many cell and animal models have been designed for therapeutic approaches and clinical trials. Today there is no treatment available for FSHD patients and therapeutic strategies targeting DUX4 toxicity in skeletal muscle are being actively investigated. In this review, we will discuss different research areas that are currently being considered to alterDUX4expression and toxicity in muscle tissue and the cell and animal models designed to date.
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