Corporate Banner
Satellite Banner
Proteomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Clue to Cause of Motor Neurone Disease Revealed in new Genetic Study

Published: Thursday, April 01, 2010
Last Updated: Thursday, April 01, 2010
Bookmark and Share
Researchers have discovered a fifth genetic mutation associated with typical motor neurone disease, or amyotrophic lateral sclerosis, that has a similar pathological effect to certain genetic mutations revealed in earlier studies.

Ultimately, the researchers hope that understanding what is causing motor neurone disease (MND) will lead to new avenues for treatment.

MND is a progressive neurodegenerative disease that attacks the upper and lower motor neurones. Degeneration of the motor neurones leads to weakness and wasting of muscles, causing increasing loss of mobility in the limbs, and difficulties with speech, swallowing and breathing.

The new research, published today in the journal Proceedings of the National Academy of Sciences and led by researchers from Imperial College London, provides strong further genetic evidence that the disease is caused by proteins clumping together in motor neurones, which are the cells that help to control the movement of muscles.

The effect of proteins clumping together in this way, known as protein aggregation, is toxic and it ultimately kills motor neurones. Protein aggregation is believed to be involved in other neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. Previous studies have found a similar association between genetic mutations linked to protein aggregation and MND.

The newly discovered mutation, known as R199W-DAO, has been found in a family with a genetic history of MND. R199W promotes toxic protein aggregation inside motor neurones. It also interferes with levels of D-serine, which modulates the transfer of information between neurones. D-serine accumulates in the spinal cord in people with the sporadic form of MND, suggesting that this plays a role in the disease.

Professor Jackie de Belleroche, the lead author of the study from the Department of Neurosciences and Mental Health at Imperial College London, said: "Motor Neurone Disease is a fatal condition for which there is currently no cure. Our finding is one valuable piece in the puzzle to show what's happening with the disease. Unfortunately we're a long way from finding a cure for MND, but it's only through understanding how MND works that we'll be able to find new ways to treat it."

The researchers discovered the new mutation after looking at 20 members of a family with the genetically inherited form of MND, known as familial MND. Children of a parent with familial MND have a one in two risk of inheriting the disease.

In the study, all of the family members with motor neurone disease had the R199W mutation, whereas none of the individuals with parents unaffected by the disease carried it.

Dr Brian Dickie, director of research development at the Motor Neurone Disease Association, said: "Identifying definitive causes of motor neurone disease (MND), no matter how rare, is of vital importance. It will allow scientists to compare one form of MND with another, to more rapidly identify the common biochemical events that dictate whether a motor neurone lives or dies, no matter what the original cause of the disease is.  It serves as a springboard for much greater understanding of MND - and it is through this understanding that effective treatments will be developed."

The researchers did not find the R199W mutation when they looked at a larger population of unrelated people. They looked at the genetic makeup of 1,002 individuals, 780 of whom had no history of motor neurone disease, 23 who had sporadic MND, and 199 who had familial MND, and found no incidences of the mutation.

However, even though this mutation is rare, they believe that its presence in only those family members with MND means it provides valuable further clues about what is causing the disease.

This research was carried out by scientists from Imperial College London, King's College London and the Institute of Psychiatry, London. It was funded by the Motor Neurone Disease Association, the Smith's Charity, the American ALS Association, the Haywood Foundation, the Garfield Weston Foundation, and Land Securities Group.


Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,000+ scientific posters on ePosters
  • More than 4,400+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Bacterial Motors Unveiled
Nanoscopic 3D imaging has revealed how different bacteria have geared their tiny propeller motors for a wide range of swimming abilities.
Thursday, March 17, 2016
Infant Milk Formula Does Not Reduce Risk of Eczema and Allergies, Says New Study
Researchers at Imperial College London have found a type of baby formula does not reduce allergy risk - despite previous claims to the contrary.
Wednesday, March 09, 2016
Flu Virus Hijacking Tactics Revealed
Scientists at Imperial College London have discovered how flu viruses 'hijack' cell machinery when they infect the body.
Thursday, January 07, 2016
Discovery of Trigger for Bugs’ Defences Could Lead to New Antibiotics
New research shows that sigma54 holds a bacterium’s defences back until it encounters stress.
Friday, August 21, 2015
Breakthrough Could Lead to New Antibiotics
Scientists have exposed a chink in the armour of disease-causing bugs, with a new discovery about a protein that controls bacterial defences.
Friday, August 21, 2015
New Genetic Form of Obesity and Diabetes Discovered
Scientists have discovered a new inherited form of obesity and type 2 diabetes in humans.
Tuesday, June 30, 2015
Protein That Boosts Immunity to Viruses and Cancer Discovered
Researchers now developing a gene therapy designed to boost the infection-fighting cells.
Saturday, April 18, 2015
Biomarker Discovery Sheds New Light on Heart Attack Risk of Arthritis Drugs
Drug may be given a new lease of life.
Thursday, December 11, 2014
First Pictures of BRCA2 Protein Show How it Works to Repair DNA
Researchers purified the protein and used electron microscopy to reveal its structure.
Thursday, October 09, 2014
Protein ‘Map’ Could Lead to Potent New Cancer Drugs
Findings will help scientists to design drugs that could target NMT enzyme.
Saturday, September 27, 2014
New Developments in Big, Open Access Data for Dementia
Prime Minister, David Cameron, pledged a UK commitment to discover new drugs and treatment that could slow down the on-set of dementia or even deliver a cure by 2025.
Thursday, June 19, 2014
New Discovery Gives Hope that Nerves Could be Repaired After Spinal Cord Injury
Research highlights the role of a protein called P300/CBP-associated factor.
Tuesday, April 08, 2014
Scientists Design Protein to Prevent Prostate Cancer Cell Growth
New protein blocks the hormone receptors and consequently stops cancer cells from growing in the laboratory.
Thursday, January 30, 2014
Designer Protein to Prevent Prostate Cancer Cell Growth
Researchers are creating a "designer" protein that could be effective at treating prostate cancer when other therapies fail.
Friday, January 17, 2014
New Clues to How Bacteria Evade Antibiotics
Scientists have made an important advance in understanding how a subset of bacterial cells escape being killed by many antibiotics.
Friday, January 10, 2014
Scientific News
Potential “Good Fat” Biomarker
New method to measure the activity of energy consuming brown fat cells could ease the testing weight loss drugs.
Computational Model Finds New Protein-Protein Interactions
Researchers at University of Pittsburgh have discovered 500 new protein-protein interactions (PPIs) associated with genes linked to schizophrenia.
New Insights into Gene Regulation
Researchers have solved the three-dimensional structure of a gene repression complex that is known to play a role in cancer.
Controlling RNA in Living Cells
Modular, programmable proteins can be used to track or manipulate gene expression.
Soy Shows Promise as Natural Anti-Microbial Agent
Soy isoflavones and peptides may inhibit the growth of microbial pathogens that cause food-borne illnesses, according to a new study from University of Guelph researchers.
Potential Target for Revolutionary Antibiotics
An international team of including the Lomonosov Moscow State University researchers discovered which enzyme enables Escherichia coli bacterium (E. coli) to breathe.
DNA Barcodes Gone Wild
A team of researchers at University of Toronto’s Donnelly Centre and Sinai Health System’s Lunenfeld-Tanenbaum Research Institute (LTRI) has developed a new technology that can stitch together DNA barcodes inside a cell to simultaneously search amongst millions of protein pairs for protein interactions.
Biomarkers for Profiling Prostate Cancer Patients
Exiqon A/S has announced the publication of validation of prognostic microRNA biomarkers for the aggressiveness of prostate cancer in independent cohorts.
Grant to Fund Million Peaks Project
The European Research Council (ERC) has awarded a prestigious Advanced Grant to Prof. Peter Schoenmakers, Prof. Albert Polman and Prof. Huib Bakker, all three of whom work at the University of Amsterdam (UvA).
Study Finds Factors That May Influence Influenza Vaccine Effectiveness
Researchers at NIH have suggested that the long-held approach to predicting seasonal influenza vaccine effectiveness may need to be revisited.
Scroll Up
Scroll Down
SELECTBIO

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,400+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!