New cases of rare genetic disorder identified

February 13, 2012, University of Liverpool

Scientists at the University of Liverpool, working with international partners, have shown a rare genetic disease, that causes crippling osteoarthritis in the spine and major joints, is far more prevalent worldwide than previously thought.

Researchers have identified more than 100 new cases of the disease, called alkaptonuria (AKU) in a small community in Vellore, India, bringing the total number of patients there to 130. Approximately 40 patients have been found in a village in Southern Jordan, but previously the disease had been unknown to in the region. There were only four known cases in the UK in 2003, but this has since risen to more than 80 patients across the country.

Research findings suggest that more work is needed to raise the profile of the disease in countries around the world so that it can be correctly identified by medics. It is thought to affect one in 250,000 people worldwide, but many remain undiagnosed or misdiagnosed as .

Scientists at Liverpool are bringing international researchers together as part of the AKU Society to establish a global network that will help further understanding of the condition within communities and healthcare practices. The AKU Society was established in Liverpool in 2003 and supports patients diagnosed with the disease.

Patients being treated for AKU 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 where it is toxic. As a result, a black pigment, called ochronosis, forms and binds to bone, and skin. This can cause erosion of the cartilage and patients often have to undergo joint .

Dr Lakshminarayan Ranganath, researcher at the University's Institute of Ageing and Chronic Disease and clinician at the Royal Liverpool University Hospital, said: "AKU was the first genetic disease to be identified by scientists. It was described in 1902 by an English physician, but more than 100 years later there is still no cure for the disease. A drug candidate has recently been identified and is awaiting clinical trials to see if it could be used to treat AKU patients. We want to identify as many people with the condition as possible to ensure these important trials go ahead.

"Recent findings in India and Jordan show us that this disease is more prevalent than current statistics suggest and we urgently need to get research out into healthcare practices around the world so that cases can be identified and diagnosed correctly. We want to expand our international links as well as promote PhD opportunities to young researchers looking to progress our knowledge of the disease.

Professor James Gallagher, AKU researcher at the University's Institute of Ageing and Chronic Disease, said: "We are currently working to understand why the black pigment that attaches itself to joint cartilage only attaches to certain areas, whilst other sections of cartilage remain pigment-free. If we can understand the mechanisms of how the pigment binds in the body then we may be able to prevent the disease developing."

Isaac Jebaraj, Professor of Orthopaedic Surgery at the Christian Medical College, Vellore, India, said: "My work is focused on a Romani Community in South India, where we have identified approximately 100 cases of AKU. It is important for us to reach these communities as traditionally they do not attend hospitals for aliments, preferring to use herbs and oils instead. As such we anticipate that there are many more people in India with this condition that have yet to be diagnosed with the condition.

"We have now treated many of the community with anti-inflammatory drugs and some have had surgery for joint replacement. To ensure that potential new treatments reach these communities, it is important that scientists work together to progress with drug trials."

Explore further: Researchers identity potential biomarker for osteoarthritis

Related Stories

Researchers identity potential biomarker for osteoarthritis

February 5, 2012
Henry Ford Hospital researchers have identified for the first time two molecules that hold promise as a biomarker for measuring cartilage damage associated with osteoarthritis.

New method could help prevent osteoarthritis

September 12, 2011
A new method is set to help doctors diagnose osteoarthritis at such an early stage that it will be possible to delay the progression of the disease by many years, or maybe even stop it entirely.

Study indicates nanoparticles could help pain-relieving osteoarthritis drugs last longer

October 26, 2011
A novel study demonstrates that using nanoparticles to deliver osteoarthritis drugs to the knee joint could help increase the retention of the drug in the knee cavity, and therefore reduce the frequency of injections patients ...

MRI techniques can detect early osteoarthritis

August 15, 2011
Researchers from NYU Langone Medical Center's Departments of Orthopaedic Surgery and Radiology found that advanced MRI techniques can be used to detect subtle changes in joint cartilage microstructure – and provide physicians ...

Recommended for you

Osteoarthritis could be treated as two diseases, scientists reveal

January 10, 2018
Scientists at The University of Manchester have discovered that most people with osteoarthritis can be subdivided into two distinct disease groups, with implications for diagnosis and drug development.

US arthritis prevalence is much higher than current estimates

November 27, 2017
New research indicates that the prevalence of arthritis in the United States has been substantially underestimated, especially among adults

Maintaining sufficient vitamin D levels may help to prevent rheumatoid arthritis

November 20, 2017
Maintaining sufficient vitamin D levels may help to prevent the onset of inflammatory diseases like rheumatoid arthritis, research led by the University of Birmingham has discovered.

Old World monkeys could be key to a new, powerful rheumatoid arthritis therapy

November 16, 2017
In the quest for a new and more effective treatment for rheumatoid arthritis, researchers from the Keck School of Medicine of USC looked to a primate that mostly roams the land in Asia, the Middle East and Africa. It was ...

Study lists foods for fighting rheumatoid arthritis symptoms and progression

November 8, 2017
A list of food items with proven beneficial effects on the progression and symptoms of rheumatoid arthritis is provided in a new study published today in Frontiers in Nutrition. The authors suggest incorporating these foods ...

Prototype equipment can detect rheumatoid arthritis

September 28, 2017
According to a first clinical study published in the scientific journal Photoacoustics, the University of Twente and various European partners have designed a device that shows the difference between healthy fingers and arthritic ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.