News archive 2010

Genetic link for ALS risk confirmed

06 Sep 2010, PR 187/10

Genetic variations on a specific chromosome appear to play a role in a fatal motor neuron condition known as amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, research has found. The study by the Institute of Psychiatry at King’s College London was published in the online edition of The Lancet Neurology.

ALS is a form of motor neuron disease that is progressive, fatal and neurodegenerative. It is caused by the degeneration of motor neurons, the nerve cells in the central nervous system that control voluntary muscle movement. About five to 10 per cent of ALS is hereditary. A few genes have been linked to ALS, but these explain only a small proportion of familial cases. The cause of the more common sporadic ALS remains largely unknown.

Ammar Al-Chalabi from the Institute of Psychiatry led an international team in a two-stage genome-wide association study to try and identify genetic variations responsible for increased risk of sporadic ALS. The researchers began by examining DNA samples from 599 patients with sporadic ALS and 4,144 people without the disease (‘controls’) from the UK. The results showed strong evidence of an association between two genetic variations on chromosome 9 and ALS.

Finding new genetic signals

To search for new genetic signals that would otherwise be difficult to detect, the researchers also did a joint analysis (the largest genome-wide association study of ALS to date), combining the UK samples with an additional 4,312 patients with ALS and 8,425 controls from seven other countries. These findings add to increasing evidence that a region of chromosome 9 is associated with increased risk of ALS across multiple populations.

Ammar Al-Chalabi comments: ‘ALS is a much feared disease, and is the commonest reason for people to seek euthanasia, so any clues that will help understand what causes it and how to find a cure are extremely valuable. This research is important in providing confirmation that a region on chromosome 9 harbours a risk gene, and also shows what can be achieved when researchers from all over the world team up. Thirteen research teams from eight different countries were involved in this project.’

Chromosome 9p21.2 was the only significantly associated locus identified; this locus has also been previously linked with frontotemporal dementia. Importantly, none of the other four genetic loci that have been reported to be associated with ALS achieved significance in this analysis, suggesting that the previous associations might have been false-positive or population-specific results.

Notes to editors

'Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study' - The Lancet Neurology, Early Online Publication, 31 August 2010. http://www.thelancet.com/


King's College London
King's College London is one of the top 25 universities in the world (Times Higher Education 2009) and the fourth oldest in England. A research-led university based in the heart of London, King's has nearly 23,000 students (of whom more than 8,600 are graduate students) from nearly 140 countries, and some 5,500 employees. King's is in the second phase of a £1 billion redevelopment programme which is transforming its estate.

King's has an outstanding reputation for providing world-class teaching and cutting-edge research. In the 2008 Research Assessment Exercise for British universities, 23 departments were ranked in the top quartile of British universities; over half of our academic staff work in departments that are in the top 10 per cent in the UK in their field and can thus be classed as world leading. The College is in the top seven UK universities for research earnings and has an overall annual income of nearly £450 million.

King's has a particularly distinguished reputation in the humanities, law, the sciences (including a wide range of health areas such as psychiatry, medicine, nursing and dentistry) and social sciences including international affairs. It has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA and research that led to the development of radio, television, mobile phones and radar. It is the largest centre for the education of healthcare professionals in Europe; no university has more Medical Research Council Centres.

King's College London and Guy's and St Thomas', King's College Hospital and South London and Maudsley NHS Foundation Trusts are part of King's Health Partners. King's Health Partners Academic Health Sciences Centre (AHSC) is a pioneering global collaboration between one of the world's leading research-led universities and three of London's most successful NHS Foundation Trusts, including leading teaching hospitals and comprehensive mental health services. For more information, visit: www.kingshealthpartners.org.



Further information
Louise Pratt
Acting Public Relations and Communications Manager
Institute of Psychiatry
Tel: +44 (0)207 848 5378
Email: louise.a.pratt@kcl.ac.uk


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