Offering routine genetic testing for Motor Neurone Disease (MND) could improve knowledge of disease classification and impact clinical care, new research has concluded.
Routine testing may be appropriate for all MND patients – whether or not they have a family history of the disease – and could impact disease sub-classification and clinical care, the findings of the Sheffield Institute for Translational Neuroscience (SITraN) study revealed.
Currently only patients with a family history of MND, dementia, or who experience disease onset at a young age are routinely offered genetic screenings in the UK.
With the development of new therapies targeting specific genetic forms of the disease, researchers on the study – which was funded by the are recommending that all MND patients are offered a screening.
“Our study suggests that all patients with MND should, with careful counselling, be offered genetic testing,” says Professor Dame Pamela Shaw, Director of SITraN and the NIHR Sheffield Biomedical Research Centre.
“We hope that by screening all MND patients for gene mutations that are a known factor in MND, we can further our knowledge on subclassification of the disease, but also ensure that patients have access to clinical trials that are relevant for them personally.”
MND – also known as amyotrophic lateral sclerosis (ALS) – is an adult-onset neurodegenerative disease characterised by progressive injury and cell death of upper and lower motor neurons.
This leads to progressive failure of the neuromuscular system with death, usually from respiratory failure, within 2–5 years of symptoms in most cases.
Currently, there is no cure for MND – which affects 5,000 people in the UK and 450,000 people worldwide – and no effective treatments to halt or reverse the progression of this devastating disease.
Among the 100 patients who took part in the study, researchers found higher than expected genetic changes in the group of patients.
“Our study found that 42 per cent of patients involved in the screening showed variants in known MND-linked genes,” says Professor Janine Kirby, Professor of Neurogenetics at the University of Sheffield.
“This doesn’t mean that 42 per cent of MND cases are familial – but shows that some familial and sporadic cases can share the same genetic cause of disease.
“We found that 21 per cent of patients had a clinically reportable genetic alteration that has been proven to increase the likelihood of developing MND.
“Of these, 93 per cent had no family history of MND and 15 per cent met the inclusion criteria for a current MND gene therapy clinical trial.
“As future studies expand the number of verified genetic causes of MND, we will continue to see if they are also found in cases without a family history.
“This is increasingly important in light of the new personalised medicine treatments in development for MND that target a specific gene mutation to ensure that patients have access to potential treatments that could be beneficial to them.”
Dr Brian Dickie, director of research development at the MND Association, adds: “MND is a complex disease involving a complex mix of genetic and environmental factors.
“This latest research sheds more light on the genetic component and will hopefully lead to greater availability of genetic testing to aid earlier diagnosis and more tailored treatments in the future.
”This will provide an even clearer picture of the UK MND genetic landscape.’’
