New biomarker offers cheap method for monitoring genetic disorder

A team of investigators in the UK has devised a new biomarker which will make it easier to treat and monitor children afflicted with a rare genetic disorder.

Scientists at the University of Manchester determined that a blood clotting protein could be used to track the clinical outcomes of kids with mucopolysaccharide (MPS) diseases, a defect that triggers the buildup of complex sugars in the blood. The diseases can affect skeletal development, spur mental decline and lead to an early death.

"Two of the sugars that are commonly accumulated in MPS diseases are heparan sulphate (HS) and dermatan sulphate," said lead researcher Dr. Brian Bigger. "Other sugars such as chondroitin sulphate are usually not accumulated in the disease. By measuring the ratio of DS:CS in urine we can accurately diagnose the disease, but detection of sugars is expensive and technically challenging. Instead, the HCIIT method relies on detection of proteins binding to sugars and is much cheaper to perform."

- here's the report