Marfan syndrome (MFS) is a rare genetic disorder. At our company, we are dedicated to creating cutting-edge genetic testing reagents/kits and accompanying diagnostic equipment to address the challenges encountered in MFS diagnosis. Serving as your reliable partner in the realm of MFS diagnostic research, we deliver effective and all-encompassing solutions to fulfill all your scientific research requirements.
Overview of Marfan Syndrome
Marfan syndrome (MFS) is a complex genetic disorder that affects the body's connective tissue, impacting multiple organ systems. The condition, often caused by mutations in the fibrillin-1 gene (FBN1), leads to a variety of clinical manifestations affecting the skeletal system, cardiovascular system, eyes, and other tissues. MFS is an autosomal dominant genetic disorder, with reported prevalence of 1 in every 3000 to 5000 individuals.
Fig. 1 Marfan syndrome pathogenesis and related genes. (Pisano C, et al., 2020)
Pathogenesis of Marfan Syndrome
Marfan syndrome (MFS) is primarily caused by mutations in the FBN1 gene, which encodes fibrillin-1, a critical component of the extracellular matrix. The pathogenesis of MFS revolves around the structural abnormalities in fibrillin-1 and its impact on the connective tissue throughout the body.
Structural Defects in Fibrillin-1
Fibrillin-1 is essential for the formation of microfibrils that provide structural support and elasticity to various tissues. Mutations in the FBN1 gene lead to abnormal fibrillin-1 assembly, resulting in weakened connective tissue and disrupted elastic fiber function.
Effects on Connective Tissue
In individuals with MFS, the faulty fibrillin-1 impairs the integrity of the connective tissue, making it less resilient and more prone to stretching and tearing. The weakening of the connective tissue leads to the classic symptoms of MFS, including skeletal abnormalities, cardiovascular complications, and ocular manifestations.
IVD Kits for Marfan Syndrome
In vitro diagnostic (IVD) kits play a crucial role in the accurate and timely detection of Marfan syndrome (MFS). Currently, there are several IVD kits available on the market for comprehensive evaluation of individuals suspected of having MFS. These kits are primarily developed based on FBN1 gene detection and cardiovascular biomarker detection.
Genetic Testing Kits
Genetic testing is crucial for confirming MFS diagnosis. Utilizing advanced NGS and multiplex PCR technologies, these kits can be used to analyze specific regions of the FBN1 gene to identify pathogenic variants, aiding healthcare providers in making a definitive diagnosis.
Biomarker Testing Kits
Cardiovascular biomarker testing is also critical for monitoring cardiovascular health. These kits use ELISA and immunoassays to measure specific biomarkers associated with aortic dilatation and dissection, providing valuable insights into the progression of cardiovascular complications.
Our Services
At our company, we specialize in the development of IVD solutions tailored for Marfan syndrome (MFS). Our unwavering commitment is directed towards the creation of cutting-edge genetic testing kits and cardiovascular biomarker testing kits designed to pinpoint specific mutations within the FBN1 gene with exceptional accuracy and monitor cardiovascular complications. Through the innovation of complementary diagnostic devices, we aim to facilitate automated diagnosis and effective management of MFS.
We also provide point-of-care diagnostics and companion diagnostics development services for Marfan syndrome (MFS). These services enable rapid detection of biomarkers associated with MFS, facilitating early diagnosis and personalized therapies tailored to affected individuals.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Pisano C, Balistreri C R, Nardi P, et al. Risk of aortic dissection in patients with ascending aorta aneurysm: A new biological, morphological, and biomechanical network behind the aortic diameter[J]. Vessel Plus, 2020, 4(33).
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only and cannot be used to diagnose, treat or manage patients.
