Scientific Research To Study Rare Genetic Disease Alkaptonuria

Main Category: Arthritis / Rheumatology
Also Included In: Bones / Orthopaedics;  Genetics;  Heart Disease
Article Date: 06 Nov 2008 - 1:00 PDT

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Scientists at the University of Liverpool have received £500,000 to develop a treatment for the rare, genetic disease Alkaptonuria.

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.

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Article adapted by Medical News Today from original press release.
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Notes:

1. The Alkaptonuria (AKU) Society is a patient group providing an information and support network for those diagnosed with the condition. The society has been working with the University of Liverpool for four years to find a treatment for Alkaptonuria. For further information please visit http://www.alkaptonuria.info/.

2. The University of Liverpool is a member of the Russell Group of leading research-intensive institutions in the UK. It attracts collaborative and contract research commissions from a wide range of national and international organisations valued at more than £108 million annually.

Source: Laura Johnson
University of Liverpool