Maroteaux-Lamy Syndrome Drug Discovery Service

Maroteaux-Lamy Syndrome, also known as mucopolysaccharidosis type VI (MPS VI), is an autosomal recessive genetic disorder that occurs mostly in children due to a deficiency of lysosomal enzymes. MPS VI can be divided into three different modes: severe, intermediate, and mild according to the age of onset and clinical symptoms, and its clinical features mainly include neurological hypoplasia, abnormal bone & joint development, and dysfunction of cognitive and behavioral ability. Creative Biolabs provides flexible, robust, facile one-stop MPS VI solutions for our customers all over the world with highly reproducible and accurate data.

Background and Pathology of MPS VI

MPS VI is a rare genetic disorder caused by pathogenic variants in the arylsulfatase B (ARSB) gene. Variation in ARSB results in the lack and deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB), which in turn leads to the pathological accumulation of glycosaminoglycan (GAG) molecules, such as dermatan sulfate and chondroitin sulfate. Elevated and deposited GAG affects most organ systems, starting with bone growth, and often leads to very serious pathology. There are many different patterns of pathogenic mutations in ARSB, and at least 40 different mutation patterns have been identified so far, of which the alleles c.454C> T[p.(Arg152Trp)] and c.962T> C[p.(Leu321Pro)] are the most common variants.

Fig 1. Positions of MPS VI mutations in the human ARSB gene. (Harmatz, 2017)

Diagnosis and Intervention of MPS VI

MPS VI is mainly identified by postural features and pathological reactions, and the diagnosis can also be made by quantitative analysis of GAG in urine. The therapeutic intervention of MPS VI is often symptomatic and individualized. In recent years, the in-depth understanding of pathogenic genes and proteins has led to several promising approaches. With our in-depth understanding of MPS VI and years of experience in the field of biology, Creative Biolabs currently provides clients with screening, synthesis and identification services for MPS VI drug molecules. We also characterize and manipulate the ARSB gene, or interfere with the GAG biosynthetic pathway. In addition, we also use classical molecular biology methods to evaluate the GAG substrate management ability and MPS carrying ability of your drug molecule of interest.

Fig 2. Crystal structure of ASB protein. (Avanzo, 2021)

Our Comprehensive Services

Despite understanding the etiology and mechanisms, MPS VI remains a complex disease that requires an ongoing multidisciplinary approach for further investigation. As a preeminent company in biotechnology, Creative Biolabs understands the advantages of the right technology and excellent research methods. We provide classic standardized biological experiments, such as enzyme activity detection, PCR, flow cytometry, tissue staining, etc. We can also provide you with molecular screening, synthesis, characterization and conjugation services according to your experimental needs. On top of this, we also track and monitor the key molecules and genes of MPS VI. To this end, we provide cutting-edge one-stop MPS VI solutions to our global customers, including suitable animal models or cell models induced by cell lines such as fibroblasts, myoblasts, etc., to detect biological components or chemical molecules of your interest, drug's efficacy, and pharmacokinetics in vitro or in vivo.

If you are looking for a one-stop MPS VI solution, we can provide the corresponding service and be your most reliable partner. If you want to know more information or look for our assistant, please do not hesitate to contact us.

References

1. Haimatz, P.R.; et al. Mucopolysaccharidosis VI: Pathophysiology, diagnosis and treatment. Frontiers in Bioscience. 2017, 22: 385-406.
2. Avanzo, F.D; et al. Mucopolysaccharidosis type VI, an updated overview of the disease. International Journal of Molecular Sciences. 2021, 22: 13456.