New genetic discovery could boost treatment for stroke patients
Experts say findings may lead to more personalised medicine
Steve Connor is the Science Editor of The Independent. He has won many awards for his journalism, including five-times winner of the prestigious British science writers’ award; the David Perlman Award of the American Geophysical Union; twice commended as specialist journalist of the year in the UK Press Awards; UK health journalist of the year and a special merit award of the European School of Oncology for his investigative journalism. He has a degree in zoology from the University of Oxford and has a special interest in genetics and medical science, human evolution and origins, climate change and the environment.
Monday 06 February 2012
Scientists have identified a genetic mutation in one of the 23,000 human genes that can double the risk of a stroke, which kills more than six million people worldwide each year and is the second top cause of death in developed countries.
A study of thousands of stroke patients in Britain and Germany found a link between the most common type of stroke – a blocked blood vessel leading to the brain – and a genetic variation in a gene known as HDAC9. Although strokes are known to run in families, this is one of the first studies to identify a precise DNA variant in the human genetic code that doubles a person's risk of developing a blocked artery supplying vital oxygen to the brain.
The HDAC9 gene was already known to be involved in the formation of muscle tissue and the development of the heart, but the latest research suggests it is also implicated in a particular kind of illness called large-artery ischaemic stroke.
Scientists said the DNA variation occurs on about 10 per cent of the chromosomes carrying the HDAC9 gene. People who inherit two copies of the variant, one from their mother and one from their father, face twice the risk of developing this type of stroke than people with no copies of the gene variant, they said. The study, published in Nature Genetics and funded by the Wellcome Trust charity, used a relatively new scientific technique of genome-wide association studies to compare the DNA of some 10,000 stroke patients with the DNA of 40,000 people who have not had a stroke.
Stroke, or cerebrovascular disease, is among the three most common causes of death and is a main cause of chronic disability and paralysis, especially in the elderly. Ischaemic stroke, caused by a blocked artery to the brain, can be caused by several different kinds of disease, the most common being a narrowing of blood vessels in the neck or head. About 80 per cent of strokes are ischaemic and one of the most common causes is a blockage in the large cerebral or carotid arteries.
Studies on identical twins and members of families with a history of stroke have established a clear genetic component but until now the nature of the precise mutations involved has eluded medical scientists. The hope is that by knowing the genetic faults that increase stroke risks, researchers can design better drugs.
"Our study shows that the different subtypes of stroke could involve quite different genetic mechanisms. This is really fascinating, and if it holds up more generally will move us closer to personalised medicine," Professor Peter Donnelly, of the University of Oxford, said.
Peter Coleman, deputy director of research at the Stroke Association, which partly funded the study, said: "Over a third of strokes are caused by a blockage in one of the large blood vessels supplying blood to the brain. Findings from this ground-breaking study appear to show a genetic link which may affect a person's risk of large-vessel stroke" He said the research could lead to new methods of screening and prevention for large vessel stroke.
Arsenal strengthened their grip on a top-four finish with a straightforward 3-0 win over Hull City.
Easter egg hunt horror as mother finds dead body under deck of house
Missing Malaysia Airlines Flight MH370: Wreckage could be found within a week as search reaches 'very critical juncture', says minister
Wheat rust: The fungal disease that threatens to destroy the world crop
Loch Ness Monster found on Apple Maps?
Royal Tour 2014: Is the Duchess of Cambridge the only person ever to climb into a fighter jet wearing a dress and high heels?
The food poverty scandal that shames Britain: Nearly 1m people rely on handouts to eat – and benefit reforms may be to blame
Scottish independence: It is the English who should be on their knees, begging the Scots to vote ‘No’
Nigel Farage fatigue? Half of voters ‘immune’ to Ukip’s appeal
'Sinful': Video of British Muslims dancing to Pharrell Williams's hit Happy comes under attack
Nigel Farage: I’m taking on the status quo, and the Establishment’s fighting back
Refugee facing deportation from Sweden saved by fellow passengers refusing to let plane leave
- 1 Easter egg hunt horror as mother finds dead body under deck of house
- 2 'Natural' energy drink banned for containing erectile dysfunction drug
- 3 A bottle of wine a day is not bad for you and abstaining is worse than drinking, scientist claims
- 4 Loch Ness Monster found on Apple Maps?
- 5 How We Met: Alison Moyet & Emma Kennedy: 'I knew we'd be friends because she was happy to make a prat of herself'
£150.00 per week: QA Apprenticeships: This company is a company that specializ...
£153.75 per week: QA Apprenticeships: This company is an innovative outsourcin...
£150.00 per week: QA Apprenticeships: This company has been providing on site ...
£150.00 per week: QA Apprenticeships: We've been supplying best of breed peopl...