Rare disease research sheds new light on osteoarthritis

​A former Lancaster Royal Grammar School pupil has returned to his home city to further his research into a rare genetic disease.

Dr Adam Taylor, who is originally from Slyne-with-Hest, has joined Lancaster University’s Faculty of Health and Medicine where, alongside teaching anatomy to the cohort of Lancaster medical students, he is developing research into a painful degenerative joint condition called Alkaptonuria.

Alkaptonuria, which affects around one in 250,000 to 500,000 people in the UK, is associated with severe early onset arthritis. Sufferers are unable to breakdown certain amino acids (tyrosine and phenylalanine) found in protein. As a result, a substance called homogentisic acid builds up in the body causing damage to cartilage and joints by depositing as a black pigment. Other symptoms include, darkening of the cartilage in the ears, dark spots in the whites of the eye, stiffening of the heart valves and most strikingly black urine.

His work could also help shed new light on the much more common condition Osteoarthritis which is currently estimated to affect over 8.5 million people in the UK alone; a number which will only rise as life expectancy increases.

Dr Taylor, a bone & cartilage biologist, working in collaboration with his colleagues in Liverpool as part of the ‘findAKUre’ project, will analyse donated pieces of bone and cartilage from hip and other joint replacement operations in patients with Alkaptonuria. He will then use this information to make comparisons between joint degeneration in patients with Alkaptonuria and those with Osteoarthritis.

Alongside analysis of patient samples, researchers will also use laboratory cells which they have developed to reproduce the deposition of the damaging black pigment. These cells show black pigment much quicker than it presents in patients and should help to distinguish what is causing the pigment and what drugs may help to prevent it happening.

He said: “Because Alkaptonuria is a rare disease little is known about it, therefore sufferers can often go undiagnosed or be misdiagnosed. Many of them are young and otherwise healthy people who are in chronic pain in many of their joints. Sometimes the first time their condition comes to light is when a surgeon operates to replace a diseased hip, knee or shoulder and discovers these striking black deposits in the cartilage.

“We are beginning to understand more about the pathway which the disease follows and because there are certain close parallels between the two diseases we are hopeful that with more work this understanding of Alkaptonuria could also shed fresh light on osteoarthritis.

“This would not be the first time that a rare disease has helped shed new light on a more common disease. For example statins which are now commonly used to treat high cholesterol originally were developed to treat a rare genetic condition called familial hypercholesterolaemia.

“The more we understand about Alkaptonuria the more chance we have of helping not only the people who suffer from this disease but potentially one day many thousands more.”