Blood-Clotting Agent Diagnoses and Monitors Childhood Genetic Diseases

A protein involved in blood clotting can be used to diagnose and subsequently monitor the treatment of a group of childhood genetic diseases.

Scientists demonstrated that the clotting agent, heparin cofactor II/Thrombin (HCII/T) complex, could be used as a "biomarker," or biological tell, in individuals with mucopolysaccharide (MPS) diseases.

MPS diseases are severe metabolic conditions caused by a genetic defect that affects the body's ability to break down complex sugars in cells and the bloodstream. The conditions result in a range of symptoms from abnormal skeletal development to mental decline and even premature death depending on the type of sugars built up in the body.

A recent advance whereby the missing or faulty enzyme that breaks down the sugars is replaced artificially in affected individuals has made the need for an accurate diagnostic tool for these diseases more pressing.

Dr. Brian Bigger, from Manchester's MPS Stem Cell Research Laboratory (United Kingdom) said, "HCII/T complex was originally developed in Canada as a test for patients with MPSI, II and VI. We were able to show that HCII/T complex can clearly distinguish between untreated patients with MPSI, MPSII, MPSIIIA, MPSIIIB, MPSIIIC, MPSVI, and unaffected individuals."

"We also went on to monitor long-term clinical outcomes in patients with MPSI, MPSII, and MPSVI after treatment to show that elevations of both this biomarker, and the dermatan sulphate: chondroitin sulphate biomarker currently used in the diagnostic laboratory in Manchester, correlated with clinical treatment outcomes in patients. "…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."

The original article about this study was published in December 2010 online in the Journal of Inherited Metabolic Disease, the official Journal of the Society for the Study of Inborn Errors of Metabolism.

Related Links:
Manchester's MPS Stem Cell Research Laboratory