Mucopolysaccharidoses (MPS) are inherited disorders, and are often only diagnosed once symptoms become serious and lasting damage is done. U.S. researchers have developed a technology for identifying MPS biomarkers, which could lead to diagnostics for these potentially disabling disorders.
MPS disorders are caused by problems with the storage of types of sugars called glycosaminoglycans. There are 11 different types of MPS disorders, each associated with a different missing enzyme. The disorders cause problems with physical and mental development, and the process of diagnosis can often take years. MPS can be treated, but physicians need to know exactly which form of the disease the patient has, and must start treatment as early as possible to avoid the damage becoming irreversible.
The technology, developed by teams from the University of California-San Diego School of Medicine and Zacharon Pharmaceuticals, is based on detecting the increased levels of different glycosaminoglycans, which indicate the type and severity of the disease.
"A child often has multiple visits with their pediatrician. Eventually they are referred to a metabolic disease specialist, where rare diseases are considered. It takes an expert to identify MPS and its most likely form in each patient. Every subclass of MPS has its own specific diagnostic test, so developing better diagnostics is an essential part of effective treatment," said Jeffrey Esko, Ph.D., a professor in the Department of Cellular and Molecular Medicine and co-director of the Glycobiology Research and Training Center at UC-San Diego, and co-author of the paper published in Nature Chemical Biology.
Zacharon Pharmaceuticals is developing urine and blood tests to screen for MPS and test for responses to therapy, which could help physicians tweak treatment regimes and biopharma companies develop new drugs.
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- check out the abstract