Sign in: Staff/Students
AKU was the first human disorder that was recognised as a genetic disease 100 years ago, but is often mistaken for severe arthritis
Scientists at the University of Liverpool and the Royal Liverpool University Hospital have completed human trials on a drug that has proved successful in preventing the development of a rare bone disease.
The drug, called nitisinone, was originally developed as a weedkiller, but during toxicity testing it was revealed that it blocked the breakdown of an amino acid, called tyrosine, which plays a crucial role in the development of the genetic disease, alkaptonuria (AKU).
Tyrosine is broken down in alkaptonuria patients, producing a substance called homogentisic acid (HGA), most of which is eliminated in the urine, but some is deposited as a black pigment in the body tissue where it is toxic. Nitisinone, however, can prevent tyrosine being broken down in the first place, blocking the production of HGA.
AKU was the first human disorder that was recognised as a genetic disease 100 years ago, but is often mistaken for severe arthritis. The black pigment, called ochronosis, binds to bone, cartilage and skin, causing the eventual erosion of cartilage and the onset of osteoarthritis.
Professor James Gallagher, from the University of Liverpool’s Institute of Ageing and Chronic Disease, said: “This is the first successful human trial of a potential treatment for AKU and we are excited by the results.
“The trial suggested that if nitisinone is administered at the earliest sign of disease, and perhaps throughout a patient’s life, then it may prevent the disease developing.”
The team believes that the work could also go some way to understanding the driving processes of ageing and more common degenerative diseases such as osteoarthritis.
The research, led by Professor L Ranganath and including PhD student Andrew Hughes and Dr Anna Milan, is funded by EUFP7, is published in the journal, Annals of Rheumatic Disease.
You must be logged in to post a comment.
All recent news
Chemistry student wins European Undergraduate Placement of the Year award
Minister for Small Business visits as Help to Grow rolled out by Management School
Prof Tom Solomon elected Vice President of the Academy of Medical Sciences
Liverpool Bayesian model helps calculate COVID-19 R number
Event: Live, interactive family show on COVID with Tom Solomon
We are delighted to announce the election of our new Vice President (International), Professor Tom Solomon CBE FMedSci @RunningMadProf
Read more here: http://ow.ly/snrJ50GuFog
A Bayesian statistical model created by @LivUniEEE researchers is one of the models being used by the UK Government to estimate the UK’s COVID -19 R number. #LivUniCovid
Read more: https://bit.ly/3AZJdTb
We welcomed Minister for Small Business, Paul Scully MP (@scullyp) this afternoon to discuss @UoLManSchool's successful roll out of the #HelptoGrow scheme