Blood-clotting agent can diagnose fatal genetic diseases, finds study

University of Manchester scientists have shown that a protein involved in blood clotting can be used to diagnose and subsequently monitor the treatment of a group of childhood genetic diseases. In the study, published in the Journal of Inherited Metabolic Disease , the researchers were able to show that the clotting agent, heparan 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. Treatment options have been limited but recent advances 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. Lead researcher Dr Brian Bigger, from Manchester's MPS Stem Cell Research Laboratory, 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.