Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by the progressive degeneration and weakness of muscles. Our company specializes in the research, diagnosis, and therapy of rare disorders, including DMD. It can provide you with all aspects of services to support your DMD research progress.
Overview of DMD
DMD is a serious progressive muscle atrophy disease. This rare disease primarily affects males, and the prevalence is notably rare, with fewer than 10 cases per 100,000 males. In individuals with DMD, the lack of functional dystrophin leads to the destabilization of the muscle cell membrane. The disease progresses rapidly, leading to loss of ambulation by early adolescence and eventual respiratory and cardiac complications.
Fig.1 Dystrophin gene with exon mutation spots and their corresponding domains. (Sun, C., et al., 2020)Pathogenesis of DMD
The pathogenesis of DMD stems from a mutation in the dystrophin gene, crucial for muscle structure maintenance. The deficiency of dystrophin renders muscle fibers susceptible to damage, inflammation, fibrosis, and eventual cell death. In response to the ongoing muscle damage, inflammatory cells are recruited to the affected muscle tissue. These inflammatory cells release cytokines and other immune mediators that contribute to further muscle damage and fibrosis.
Fig.2 How intrinsic DMD gene deficit affects satellite cells (SC) activity and function. (Sun, C., et al., 2020)Diagnostics Development of DMD
Accurate characterization of DMD mutations and accurate diagnostic tools are important for genetic counseling and personalized therapeutics. Multiple PCR, multiplex ligation-dependent probe amplification (MLPA), and next-generation sequencing (NGS) are the key technologies for gene diagnosis.
Therapeutics of DMD
Read-through therapy
Read-through therapy utilizes small molecules (such as gentamicin, negamycin, and its synthetic analogues) to produce functional anti-muscular atrophy proteins.
Exon-skipping therapy
Exon-skipping therapies like eteplirsen, golodirsen, and casimersen show promise in increasing anti-muscle atrophy protein expression.
Gene therapy
Gene editing techniques, such as Adeno-associated virus-mediated mini/microdystrophin transfer and CRISPR/Cas9-based corrections, offer avenues for genomic defect rectification.
Exogenous Cell Transplantation therapy
Exogenous cell transplantation, involving myoblasts and satellite cell injections, aims to boost myogenic factors' expression, aiding in damaged muscle repair.
Our Services
With skilled personnel and advanced technical capabilities, we provide animal models and therapeutic platform development services, which are conducive to enhancing your insights into the pathophysiology and the development of novel therapeutics for DMD.
Platforms of DMD Therapy Development
Animal Models of DMD
Animal models are essential in unraveling the complexities of DMD mechanisms and testing potential therapies. Our company provides a range of animal models to facilitate your research endeavors.
| Chemical-induced Models | ||
| Chemical drugs that can cause chondrodysplasia in animal models include retinoic acid and thalidomide. They can interfere with the normal growth and development of bones, leading to skeletal abnormalities. | ||
| Optional Models |
|
|
| Genetically Engineered Models | ||
| Various animal models have been developed using genetic engineering techniques to mimic the pathophysiology of DMD. By introducing mutations at different positions in the dystrophin gene, researchers can study disease progression and evaluate the efficacy of potential therapeutics. | ||
| Optional Models |
|
|
|
|
|
|
|
|
|
|
|
| Optional Species | Mice, Rats, Dogs, Non-Human Primates, Others | |
We offer comprehensive services to support your pharmacokinetics analysis and drug safety evaluation to propel your understanding of DMD pathophysiology and advance novel therapeutic interventions. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Sun, Chengmei et al. "Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update." Genes 11.8 (2020): 837.
- Wasala, Nalinda B et al. "Duchenne muscular dystrophy animal models for high-throughput drug discovery and precision medicine." Expert opinion on drug discovery 15,4 (2020): 443-456.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.