Patients being treated for the disorder do not have enough of the enzyme, homogentisic acid oxidase, which causes acid to build up in the body. Some of this acid is eliminated in the urine, but the remainder is deposited in body tissue where it is toxic. The result is ochronosis; the formation of a black pigment which binds to bone, cartilage, and skin.
The research at Liverpool will be funded by the Alkaptonuria (AKU) Society following the organisation’s successful bid to the Big Lottery Fund. The research will use models of ochronosis that have been developed at the University. Tissue samples donated by Alkaptonuria patients undergoing joint replacement surgery will also be analysed.
There is no known cure for the disease which affects one in 200,000 people worldwide and can leave sufferers with crippling osteoarthritis in their spine and large joints, heart disease and in need of joint replacement surgery.
Head of Human Anatomy and Cell Biology, Professor Jim Gallagher, said: “The black pigment that leaks into the bloodstream and attaches itself to joint cartilage is the main cause of illness. What is interesting is that the pigment only attaches itself to certain areas of cartilage, whilst other sections remain pigment-free.
“If we can find out why it does this we could prevent the pigment from binding altogether. This would dramatically reduce the risk of arthritis in the joints of Alkaptonuria sufferers. Only by understanding the basic mechanisms of the development of ochronosis will we be able to develop strategies to prevent it.”
Scientists will use their ochronosis models to provide a fundamental understanding of the development of the condition and to develop potential therapies.
Laura Johnson | alfa
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