Facioscapulohumeral Muscular Dystrophy (FSHD)
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disease that is caused by a genetic mutation in the DUX4 gene. Our company is dedicated to researching rare diseases like FSHD and providing comprehensive services ranging from mechanistic studies to therapeutic development.
Overview of FSHD
FSHD is a complex genetic disorder characterized by progressive muscle weakness and atrophy. This rare disease has a prevalence of 4-12 cases per 100,000 individuals, and its pathogenesis is linked to mutations in the DUX4 gene. This mutation leads to the production of a toxic protein causing muscle cell damage and dysfunction.
Fig.1 Early and late skeletal muscle involvement in FSHD. (Banerji, C. R. S., and Zammit, P. S., 2021)Pathogenesis of FSHD
The molecular mechanisms underlying FSHD involve the deletion of repeated elements on chromosome 4q, known as D4Z4 of the gen DUX4, resulting in the overexpression of the DUX4 gene. This abnormal expression triggers cascades of detrimental effects such as muscle cell apoptosis, atrophy, and immune system activation.
Fig.2 The genetics and molecular mechanism for FSHD. (Cohen, J., et al., 2021)Diagnostics Development of FSHD
The heterogeneity of FSHD necessitates specific biomarkers for accurate diagnosis and monitoring of disease progression. The PAX7 target gene score including hundreds of upregulated and downregulated PAX7 target genes has shown promise as a biomarker for FSHD status and therapy evaluation.
Therapeutics of FSHD
Anabolic Therapy
Anti-inflammatory / oxidative Therapy
Gene Therapy
Our Services
Through advanced technologies and expert researchers, we offer animal model construction and therapeutic platform development to help you unravel the complexities of FSHD and promote the development of innovative therapies.
Platforms of FSHD Therapy Development
Animal Models of FSHD
Animal models play a crucial role in studying FSHD pathogenesis and testing potential therapeutics. By creating genetic engineering and xenograft models mimicking FSHD molecular signatures, we can help your insights into the disease progression and evaluate therapeutic interventions.
| Xenograft Models | ||
| The muscle tissue or cultured cells derived from FSHD individuals were transplanted into immunodeficient mice. After some time, the expression of DUX4 and DUX4 target genes in FSHD grafts was significantly up-regulated, which could summarize many aspects of FSHD. | ||
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| Genetically Engineered Models | ||
| The genetic engineering model refers to the design of a conditional expression system for orthologous disease genes in selected animals to stably and controllably express pathogenic genes. | ||
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| Optional Species | Mice, Rats, Zebrafish, Non-Human Primates, Others | |
With our comprehensive services and enriched experiences, we can support your pharmacokinetics analysis and drug safety evaluation, to help you make significant strides in the understanding and therapeutic of FSHD. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- DeSimone, Alec M et al. "Cellular and animal models for facioscapulohumeral muscular dystrophy." Disease models & mechanisms 13.10 (2020): dmm046904.
- Banerji, Christopher R S, and Peter S Zammit. "Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7." EMBO molecular medicine 13.8 (2021): e13695.
- Cohen, Justin et al. "Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy." Trends in molecular medicine 27.2 (2021): 123-137.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.