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Animal Models for Sarcoglycanopathy

Animal models have been instrumental in advancing our understanding of the pathophysiology of sarcoglycanopathies and in the development of potential therapeutics for these diseases. Our company is committed to offering professional and reliable disease modeling services, including the development and characterization of animal models for sarcoglycanopathies, as well as the phenotypic characterization and evaluation of potential therapeutics. Our expertise in sarcoglycanopathy research, commitment to quality and customer service, and competitive pricing make us an ideal partner for researchers in this field.

Background

Sarcoglycanopathies are a group of genetic disorders that affect the muscles and are characterized by the progressive weakness and wasting of skeletal muscles. These disorders are caused by mutations in genes that encode for sarcoglycans, which are components of the dystrophin-glycoprotein complex that maintains muscle fiber structural integrity. There are four different types of sarcoglycanopathy (α-, β-, γ- or δ-sarcoglycanopathy), depending on the sarcoglycan gene affected.

Several studies have demonstrated the utility of mouse models for studying the pathogenesis of limb-girdle muscular dystrophy (LGMD), a type of sarcoglycanopathy. Researchers used genetically engineered mouse models that recapitulate the human disease phenotype to identify potential therapeutic targets for the disease. Currently, two animal models of sarcoglycanopathy (SGCα and SGCγ) have been submitted to the Committee for Orphan Medicinal Products (COMP), and these models appear suitable for preclinical and proof-of-concept studies.

Fig. 1 Marked dystrophic histopathology in Sgcg 521ΔT mice.

Fig. 1 Marked dystrophic histopathology in Sgcg 521ΔT mice. (Demonbreun A R, et al., 2020)

Disease Modeling Services

We have extensive experience in generating genetically engineered mouse models by overexpressing mutant genes or replacing wild-type (WT) genes using a variety of targeted or non-targeted approaches. These models accurately recapitulate human sarcoglycanopathy pathophysiology. Our team of experts can work with clients to design and create custom animal models that meet their specific research needs. We offer animal model generation services including:

  • Mouse models of sarcoglycanopathy
    We offer our clients Sgca-null, Sgcb-null, Sgcg-null, and Sgcd-null mice for the study of α-, β-, γ- and δ-sarcoglycanopathies, respectively. These mouse models show progressive muscle pathology and dysfunction of varying severity from 1 week of age and can accurately mimic human disease.

In addition to these classical models, we also help our clients generate new variants. For example, we have reconstructed the 521ΔT point mutation in Sgcg by introducing a single thymine deletion in murine exon 6 using CRISPR/Cas9-mediated gene editing. This new mouse model of this form of limb-girdle muscular dystrophy can be used to detect exon-skipping therapy for R5 γ-sarcoglycan-associated LGMD patients (LGMD2C).

  • Canine models of sarcoglycan deficiency
    We provide our clients with dog models with defective expression of sarcoglycan complexes in skeletal muscle.

In addition to generating animal models, our disease modeling services include phenotypic characterization. We use a range of techniques, including histology, immunohistochemistry, and functional assays, to evaluate the phenotype of our animal models and assess the efficacy of potential therapies. Our state-of-the-art facilities and equipment allow us to perform these analyses with high precision and accuracy.

Our Advantages

  • Deep understanding of sarcoglycanopathy pathophysiology
  • Rich experience in developing animal models
  • Be available to answer any questions and provide guidance throughout the entire research process

Our animal modeling services for sarcoglycanopathy offer a range of advantages, including customized animal models, phenotypic characterization, well-established quality systems, and competitive pricing. Our team of experts has extensive experience in the development and characterization of animal models for sarcoglycanopathy, and we are committed to providing our clients with high-quality data in a timely manner. If you are interested in our animal modeling services for sarcoglycanopathy, please contact us for more information.

Reference

  • Demonbreun, A .R.; et al. A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping. Disease Models & Mechanisms, 2020, 13(2): dmm040832.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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