16 February 2012
Researchers at Royal Brompton Hospital and Imperial College London have used high-speed DNA sequencing technology to provide detailed genetic analysis of 300 heart patients. The study findings, published in the New England Journal of Medicine, are hailed as ‘the beginning of the end’ for diagnosing inherited dilated cardiomyopathy (DCM).
DCM is one of the leading causes of heart failure, affecting more than 30,000 people in the UK. The condition often develops due to a genetic cause and leads to scarring of the heart wall and damage to the muscle. This causes the heart to become weakened and enlarged, preventing it from pumping efficiently.
The study, which is an international collaboration between teams at Royal Brompton, the National Heart & Lung Institute at Imperial College London, Harvard Medical School in the United States and University of Trieste in Italy, identified a mutation in the Titin gene as being related to the most common genetic cause of DCM. The mutation appears in one in four of all patients with the condition.
The UK-based team members, who carried out their work at the National Institute of Health Research’s
cardiovascular biomedical research unit (BRU), says the findings mean that 50 per cent of all patients can be effectively screened and diagnosed for DCM and family members can be tested to show if they are also affected.
Professor Dudley Pennell, who is a cardiologist at Royal Brompton, director of the cardiovascular BRU and professor of cardiology at Imperial, said: “A diagnosis of DCM not only impacts on the individual patient but their family members as well, who may have to return to hospital for repeat testing to check if they also have the condition. By identifying Titin, we can now tell family members of affected patients once and for all if they have DCM or not.”
The speed of the DNA sequencing significantly contributed to the research outcome. ‘Massive Parallel Sequencing’ technology allows researchers to simultaneously read trillions of DNA letters, which are inside every gene of the human body, at record-breaking speeds.
Professor Stuart Cook, director of the genetics laboratory in the BRU and professor of molecular and clinical cardiology at the Institute of Clinical Sciences, Imperial College London, said: “We have gone from a walking pace to working at the speed of light. The technology for gene sequencing has accelerated significantly and even a year ago it could have taken up to a year to analyse genes in one patient – in this study we could do this in two weeks.
Professor Peter Weissberg, medical director at the British Heart Foundation (BHF), which part-funded this research, said: “This study marks the beginning of the end for the diagnosis of DCM. It has important implications for genetic testing of people at risk of DCM and, eventually, for the development of new drugs to treat heart failure.”
Read the
published study in the New England Journal of Medicine
Read the press release - "
Breakthrough in genetic causes for heart failure"
To enquire about this study, please send your query and contact details to:
Julia CoffeyCardiovascular BRU
Sydney Street
London SW3 6NP
Email:
j.coffey@rbht.nhs.uk
You will be contacted when more information is available.
