Sarcoglycanopathies
Sarcoglycanopathies also referred to as limb-girdle muscular dystrophy type 2C-F (LGMD2C-F), represent a cluster of rare genetic disorders that intricately affect the muscle fibers in individuals. As a distinguished figure in the realm of rare disease diagnostics and therapeutics development, our company excels in offering comprehensive services to drive your research.
Overview of Sarcoglycanopathies
Sarcoglycanopathies is a type of muscular dystrophy with an incidence is about 1 / 178,000, that is caused by mutations in genes that encode proteins of the sarcoglycan complex, which is a group of proteins that help maintain the structure and function of muscle fibers. The sarcoglycan complex is important for maintaining the stability of the muscle fiber membrane and for transmitting signals that control muscle contraction.
Fig.1 Proximo-distal pattern of muscles affected in sarcoglycanopathies. (Sanchez Riera, C., et al., 2021)Pathogenesis of Sarcoglycanopathies
Sarcoglycanopathies are caused by mutations in any one of the four sarcoglycan genes: SGCA, SGCB, SGCG, and SGCD. Mutations in the genes that encode the sarcoglycan complex proteins disrupt the function of the complex, leading to muscle degeneration and weakness. This results in the progressive loss of muscle mass and function seen in individuals with sarcoglycanopathies.
Fig.2 A schematic presentation of the dystrophin-associated glycoprotein complex. (Sanchez Riera, C., et al., 2021) Diagnostics Development of Sarcoglycanopathies
Genetic testing can identify mutations in the genes that encode the sarcoglycan complex proteins. Techniques such as Sanger sequencing or next-generation sequencing (NGS) accurate diagnosis of sarcoglycanopathies, thereby enabling the integration of personalized therapy strategies essential for managing the condition effectively.
Therapeutics Development of Sarcoglycanopathies
Small Molecule Drug Therapy
Drugs such as Broad-spectrum P2X receptor-antagonist oATP and P2X7 antagonist A438079 can alleviate muscle inflammation and delay disease progression. In addition, proteasome inhibitors (bortezomib) and histone deacetylase inhibitors (givinostat) play a positive role in restoring muscle strength.
Gene Therapy
Using adeno-associated viruses to introduce functional copies of the mutated sarcoglycan genes into muscle cells to restore protein expression and function. Another investigational approach involves exon skipping, by targeting and skipping faulty exons, this method aims to generate functional proteins.
Our Services
Striding at the forefront of innovation, our adept team of researchers and professionals remains steadfast in transcending conventional boundaries. Leveraging our proficiencies in animal models and therapeutic development platforms, we proffer a spectrum of services ranging from delving into disease mechanisms, and fostering innovative therapy paradigms, to scrutinizing therapeutic efficacy.
Platforms of Sarcoglycanopathies Therapy Development
Animal Models of Sarcoglycanopathies
Animal models are essential for unraveling disease intricacies, crafting prospective therapeutics, and vetting novel therapeutic stratagems. Our company provides you with a variety of animal models to advance the understanding of sarcoglycanopathies and develop effective therapeutics.
Chemical-induced Models
Chemical-induced animal models such as cardiotoxin-induced muscle injury models in animals, have also been utilized to study muscle degeneration and test potential therapeutic interventions for sarcoglycanopathies.
Optional Models: Cardiotoxin-induced model, etc.
Genetically Engineered Models
These models are genetically modified by genetic engineering techniques such as CRISPR/Cas9 to lack the expression of specific sarcoglycan proteins, mimicking the genetic mutations found in humans with sarcoglycanopathies.
Optional Models: α-sarcoglycan knockout model, etc.
Why Choose Us
Harnessing state-of-the-art technology alongside pioneering facilities, we furnish an array of services encompassing pharmacokinetic studies and drug safety evaluations, bespoke to meet the distinctive exigencies of researchers and individuals alike.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Sanchez Riera, Carles et al. "Muscle Diversity, Heterogeneity, and Gradients: Learning from Sarcoglycanopathies." International journal of molecular sciences 22.5 (2021): 2502.
- Scano, Martina et al. "Advanced therapeutic approaches in sarcoglycanopathies." Current opinion in pharmacology 76 (2024): 102459.
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