Metaphyseal Chondrodysplasia, Schmid Type (MCDS)
Metaphyseal chondrodysplasia, Schmid type (MCDS) is a rare genetic disorder that impacts the growth and development of cartilage and bone in the long bones of the body. We are committed to providing comprehensive services to researchers and scientists to promote the progress of rare diseases such as MCDS and contribute to the development of safe and effective therapies.
Overview of MCDS
MCDS is an autosomal dominant genetic disease with an incidence of about three to six cases per million of the population and characterized by short stature, shortening and bowing of the long bones, particularly in the legs, and other skeletal abnormalities. The condition is typically diagnosed in childhood and can vary in severity from mild to severe.
Fig.1 Radiographs of the individual at the first examination. (Wu, H., et al., 2021)Pathogenesis of MCDS
MCDS is caused by mutations in the COL10A1 gene, which is responsible for producing a type of collagen that is important for the growth and development of cartilage in the growth plates of long bones. The mutations in the COL10A1 gene lead to the production of faulty type X collagen, which disrupts the normal development and function of the growth plates in the long bones. This results in abnormal growth and development of the bones, leading to the characteristic features of MCDS.
Fig.2 The crystal structure of type X collagen trimerization domain. (Wu, H., et al., 2021)Therapeutics Development of MCDS
Small Molecule Drug Therapy
Carbamazepine therapy can mitigate endoplasmic reticulum stress induced by structural abnormalities and misfolded collagen in cells, thereby improving growth.
Gene Therapy
Gene therapy involves using viral vectors or gene editing techniques to introduce functional genes to correct genetic disorders, which is expected as a therapy for MCDS.
Our Services
At our company, we pride ourselves on our exceptional capabilities in the field of rare disease diagnosis and therapy. With our company's animal model and therapeutic development platform, we provide you with a full range of services, from the study of pathogenesis to the development and evaluation of innovative therapies.
Therapy Development Platforms
Animal Models of MCDS
Utilizing animal models is integral in unraveling the pathophysiology of genetic disorders like MCDS and advancing potential therapeutics. Our company can establish various kinds of appropriate animal models of MCDS to provide valuable insights into disease mechanisms and help in the development of targeted therapies for you.
Using transgenic or gene-editing techniques such as CRISPR/Cas9 to develop models with mutations in the COL10A1 gene to study the effects on skeletal development.
Optional Models: Col10a1tm1.1Rpbh model; Col10a1tm1Ksec model, etc.
Why Choose Us
Our company has cutting-edge technology and expertise to provide you with a range of services, including pharmacokinetics studies and biosafety evaluations, to further promote the development of accurate diagnosis and personalized therapy.
If you are interested in learning more about our services and how we can support your research endeavors, please do not hesitate to reach out to us for further information.
References
- Wu, Huixiao et al. "Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review." Molecular genetics & genomic medicine 9.5 (2021): e1668.
- Chreitah, Ahmad et al. "A rare case of SCHMID metaphyseal chondrodysplasia associated with hypothyroidism,growth hormone deficiency and celiac disease: case report." Annals of medicine and surgery. 85.8 (2023): 4045-4049.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.