Scientists identify gene responsible for severe skin condition
2011-03-24
(Press-News.org) The drug, called carbamazepine, is commonly used to treat patients with epilepsy and other diseases such as depression and trigeminal neuralgia. Although successful in treating the majority of patients, carbamazepine can cause side-effects that range from a mild skin irritation to severe blistering of the whole body.
The team, in collaboration with the Wellcome Trust Sanger Institute, screened more than a million variants in DNA across the human genome to understand why some patients are more prone to the drug's side-effects than others. Research in Taiwan has already identified a gene that predisposes Asian patients to the skin condition, but Liverpool scientists discovered that this gene could not be used to predict the reaction in Caucasian people.
Researchers have now identified a gene, called HLA-A*3101, in Caucasian patients that increases the risk of developing a reaction to the drug from 5% to 26%. Researchers are now working with clinicians and drug regulators to investigate how these new findings can translate into clinical practice.
Professor Munir Pirmohamed, NHS Chair in Pharmacogenetics from the University's Wolfson Centre for Personalised Medicines, said: "Adverse drug reactions are a major cause of hospital admissions. Carbamazepine is widely used and the majority of patients respond well to the treatment, but a small percentage develop skin conditions that in severe circumstances can result in painful blistering all over the body.
"For the first time we have found a significant link between the drug and the skin condition in Caucasian people that also complements the findings in Asian patients. We can now begin to work with clinicians and regulators to maximise the benefits of the drug and minimise the side-effects."
Dr Ana Alfirevic, from the University's Wolfson Centre for Personalised Medicine, said: "This is a significant finding that highlights the importance and advancement of new genetic technologies. We aim to support the development of medicines based on a patient's unique genetic make-up to allow clinicians to prescribe the most effective and safe treatments."
Dr Gianpiero Cavalleri, from the Royal College of Surgeons, said: "Rapid advances in genetic technology, together with a strong collaborative effort, have allowed us to make this important advance, which should make the treatment of epilepsy safer. Working with colleagues in Europe and the US, we have been able to access large numbers of patients to allow us to investigate common genetic trends and the mechanisms that result in this potentially serious condition."
INFORMATION:
Research conducted at the University was funded by the Department of Health and is published in the New England Journal of Medicine.
Notes to editors:
1. Other collaborators in the research include Imperial College London; University College London; Harvard University; and Duke University.
2. Other funders of the research include the National Institute for Health Research (NIHR); the Wellcome Trust; the Wolfson Foundation; and the Medical Research Council (MRC) Centre for Drug Safety Science.
3. 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 £110 million annually.
END
ELSE PRESS RELEASES FROM THIS DATE:
2011-03-24
A survey of over 9,000 people in seven different countries across Europe has shown that the majority would want to improve the quality of life in the time they had left, rather than extend it. The survey reveals attitudes across Europe for dealing with serious illnesses such as cancer, and issues raised when caring for a close friend of relative in the last few months of life. The research was carried out as part of an EU-funded project led by researchers from King's College London.
The telephone survey of 9,339 people was carried out to explore attitudes to end of life ...
2011-03-24
CHESTNUT HILL, MA (3/24/2011) – A new catalytic chemical method for the synthesis of a large and important class of carbon-carbon double bonds has been developed by scientists from Boston College and MIT, the team reports in the journal Nature. The findings substantially expand the versatility of a set of metal-based catalysts discovered only three years ago by the researchers.
With molybdenum at their core, the catalysts have now proven capable of generating the higher-energy isomer of an alkene molecule from two simpler and much more readily accessible terminal versions, ...
2011-03-24
Chevy Chase, MD— A recent study accepted for publication in The Endocrine Society's Journal of Clinical Endocrinology & Metabolism (JCEM) found that higher levels of perfluorocarbons (PFCs) in the body are associated with increased odds of having experienced menopause in women between 42 and 64 years old. Women in this age group with high levels of PFCs also had significantly lower concentrations of estrogen when compared to women who had low levels of PFCs.
PFCs are man-made chemicals used in a variety of household products including food containers, clothing, furniture, ...
2011-03-24
Chevy Chase, MD—Levels of the hormone ghrelin are low in obese women and a recent study accepted for publication in Endocrinology, a publication of The Endocrine Society, reports that mice whose mothers had low ghrelin levels were less fertile due to a defect in implantation.
Hormones involved in energy balance and metabolism, such as ghrelin, have been shown to regulate reproductive function in animals and humans. However ghrelin's role in reproductive tract development remains unclear. The current study examined the effect of ghrelin deficiency on the developmental ...
2011-03-24
ANN ARBOR, Mich. – Seemingly every year there are reports of a young, apparently healthy athlete dying on the court or playing field.
The sudden death of Wes Leonard, a junior at Fennville High School, who died of cardiac arrest from an enlarged heart on March 3, may have parents and coaches wondering if enough is being done to identify athletes at risk for dying suddenly.
"We would like to develop a better screening program to help prevent sudden cardiac death, but there is not enough rigorous data to support what that should look like," says Sanjaya Gupta, M.D., clinical ...
2011-03-24
A breakthrough in the study of chemical reactions during etching and coating of materials was achieved by a research group headed by Kiel physicist, Professor Olaf Magnussen. The team from the Christian-Albrechts-Universität zu Kiel (CAU), Germany, in collaboration with staff from the European Synchrotron Radiation Facility (ESRF) in Grenoble, France, have uncovered for the first time just what happens in manufacturing processes, used for the formation of metal contacts thinner than a human hair in modern consumer electronics, such as flat-screen television. The results ...
2011-03-24
Ambrico, creators of the popular E-Z Thin Brick installation system, have announced a new partnership with Clover Creek Brick Company of Kentucky. As providers of high quality clay brick and thin brick products, Ambrico is excited about this latest partnership, which brings Clover Creek's exclusive products directly to their customers. Specializing in high quality, tumbled bricks, Clover Creek has been producing materials at their historical production site for over 125 years, making them leaders in the clay brick industry.
Ambrico, who has been recommending Clover ...
2011-03-24
Even relatively mild stress can lead to long term disability and an inability to work, reveals a large population based study published online in the Journal of Epidemiology and Community Health.
It is well known that mental health problems are associated with long term disability, but the impact of milder forms of psychological stress is likely to have been underestimated, say the authors.
Between 2002 and 2007, the authors tracked the health of more than 17,000 working adults up to the age of 64, who had been randomly selected from the population in the Stockholm ...
2011-03-24
International piracy costs the shipping industry billions of dollars a year and leads to high-profile murders that make global headlines. Longstanding concerns over piracy have led to numerous international laws and conventions designed to keep pirates in check – but research from North Carolina State University shows that the tangled network of laws may actually be helping pirates escape justice.
"We wanted to know why the international community is not working together and taking advantage of existing laws to address piracy, even as piracy is on the rise in places like ...
2011-03-24
Methadone has been used to treat heroin addicts for nearly 50 years. Yet we have surprisingly incomplete knowledge about possible harmful effects from prolonged use. New research from the Norwegian Institute of Public Health shows that methadone affects the brain and impairs the attention of experimental animals.
In general, opioids such as heroin and morphine are known to weaken intellectual functions such as learning, memory and attention.
"It is therefore tempting to assume that methadone has similar effects," says researcher Jannike M. Andersen at the NIPH's Division ...
LAST 30 PRESS RELEASES:
[Press-News.org] Scientists identify gene responsible for severe skin condition
