Page URL:

'Hero' gene variant prolongs life for people with motor neuron disease

15 May 2009
Appeared in BioNews 508

An international team lead by UK researchers at the Centre for Neurodegenerative Research (CNR) at Kings College, London, have discovered a genetic variation that prolongs survival in people affected with motor neuron disease (MND). In a study of over 5,000 people in six countries - almost half of whom were affected with the disease - people with two copies of the so-called 'hero' variant of the KIFAP3 gene survived more than a year longer, on average, than others. The variant, reported in the journal Proceedings of the National Academy of Sciences, is the first of its kind to be discovered; working out how it prolongs life could now lead to new gene therapies and drug development for the treatment of MND.

MND destroys the motor nerve (or neuron) cells which make connections between the brain and muscles, progressing rapidly so that affected people are eventually unable to walk, talk or feed themselves. Cognitive abilities; intellect, memory and the senses are usually unaffected. The vast majority of those affected die from the disease within 2-5 years, half die within 14 months of diagnosis and five a day die in Britain alone. Yet the cause of the disease is still unknown. Only one drug to date, Riluzole, can extend life expectancy, by a few months, which means that care for the 5,000 British people currently affected by MND is mostly palliative.

The current study was prompted by the small minority of affected people who appear to be more resistant to the disease progression. Over 300,000 genetic variants were analysed using DNA from 2,359 people with MND and 2,814 people who were unaffected. People with two copies of a particular variant of the KIFAP3 (kinesin-associated protein 3) gene, which is involved in transporting essential molecules throughout nerve cells, survived on average a year and four months longer than others with MND.

Dr Brian Dickie of the Motor Neurone Disease Association (MNDA), hailed the discovery as 'a significant finding, bearing in mind the speed with which motor neurone disease can progress in patients'.

The challenge now, as highlighted by Professor Robert Brown, of the University of Massachusetts, 'is to turn this new knowledge into effective treatments'. It is hoped that more information on how this version of the gene slows progression of the disease will lead to new drugs designed to combat MND, although these are unlikely to appear within the next ten years. In addition, understanding variation in the gene itself will help to develop gene therapies that directly exploit the effect of this variation, according to the lead researcher in the study, Professor Ammar Al-Chalabi.

Motor neurone 'hero' gene offers new hope to sufferers of devastating disease
The Daily Mail |  15 May 2009
Survival gene for motor disease
BBC News Online |  12 May 2009
28 November 2011 - by Dr Marianne Kennedy 
On 18 November, Richard Grosjean became the first patient to receive a pioneering stem cell treatment in the upper part of the spinal cord. His procedure is part of an ongoing US-based clinical trial aimed at assessing the safety of injecting neural stem cells taken from eight-week-old fetuses into the spinal cords of patients with amyotrophic lateral sclerosis (ALS)...
1 June 2010 - by Victoria Kay 
A new research project, which will use human stem cells to artificially create the diseased brain cells affected in Motor Neurone Disease (MND) could pave the way for a cure for sufferers....
3 March 2008 - by Dr Charlotte Maden 
New findings in the research of motor neuron disease (MND) have been published in the journal Science which have greatly furthered understanding of the disease. MND is a currently incurable degenerative disorder in which motor neurons are killed so that muscles in the body are unable to...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.