• Protein Complex on Patrol

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Protein Complex on Patrol

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* 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. Symptoms can range from abnormal skeletal development to mental decline and even premature death.

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.

“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.”

Tests to detect sugars are both expensive and technically challenging, whereas the HCIIT method relies on detection of proteins binding to sugars and is much cheaper to perform, Dr Bigger added.

Simon Jones, a consultant paediatrician at St Mary’s Hospital in Manchester and co-author on the paper, added: “These are difficult diseases to treat and monitor so advances such as this will help us to diagnose and treat patients more effectively in the future.”


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