Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

An important breakthrough in the fight against muscular dystrophies

13.09.2012
Recent findings by an international collaboration including IRCM researchers hold new implications for the pathogenesis of myotonic dystrophy
An important breakthrough could help in the fight against myotonic dystrophy. The discovery, recently published in the prestigious scientific journal Cell, results from an international collaboration between researchers at the IRCM, the Massachusetts Institute of Technology (MIT), the University of Southern California and Illumina. Their findings could lead to a better understanding of the causes of this disease.

Myotonic dystrophy (DM), also known as Steinert's disease, is the most common form of muscular dystrophies seen in adults. This disorder is characterized by muscle weakness and myotonia (difficulty in relaxing muscles following contraction). It is a multi-system disease, typically involving a wide range of tissues and muscle.

“We studied a specific family of proteins called muscleblind-like proteins (Mbnl), which were first discovered in the fruit fly Drosophila melanogaster,” says Dr. Éric Lécuyer, Director of the RNA Biology research unit at the IRCM. “These RNA-binding proteins are known to play important functions in muscle and eye development, as well as in the pathogenesis of DM in humans.”

Because of the extreme heterogeneity of clinical symptoms, DM has been described as one of the most variable and complicated disorders known in medicine. The systems affected, the severity of symptoms, and the age of onset of those symptoms greatly vary between individuals, even within the same family.

“In patients with DM, levels of Mbnl proteins are depleted to different extents in various tissues,” explains Dr. Neal A.L. Cody, postdoctoral fellow in Dr. Lécuyer’s laboratory. “These alterations in levels and functions of Mbnl proteins are thought to play an important role in causing the disease.”

“The global transcriptome analyses conducted in this study yielded several insights into Mbnl function and established genomic resources for future functional, modeling, and clinical studies,” add Drs. Christopher B. Burge and Eric T. Wang from MIT, the researchers who headed the study. “This knowledge will be invaluable in reconstructing the order of events that occur during DM pathogenesis, and could lead to the development of diagnostic tools for monitoring disease progression and response to therapy.”

According to Muscular Dystrophy Canada, myotonic dystrophy is the most common form of muscle disease, affecting approximately one person in 8,000 worldwide. However, in Quebec’s region of Charlevoix / Saguenay-Lac-Saint-Jean, the prevalence is exceptionally high, with one person in 500 affected by the disease. There is no cure for myotonic dystrophy at the present time. Treatment is symptomatic, meaning that problems associated with myotonic dystrophy are treated individually.
About the research project
This research project was funded by grants from the National Institutes of Health (NIH) to Christopher B. Burge and by an NIH training grant and a Muscular Dystrophy Foundation fellowship to Eric T. Wang. Work conducted by Neal A.L. Cody in Dr. Lécuyer’s laboratory was funded by the Fonds de Recherche du Québec – Santé.

The article published in Cell, Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins, was prepared by Eric T. Wang, Thomas T. Wang, Daniel J. Treacy, David E. Housman and Christopher B. Burge from the David K. Koch Institute for Integrative Cancer Research at the Massachusetts Institute of Technology (MIT); Neal A.L. Cody and Éric Lécuyer from the IRCM; Sonali Jog, Michela Biancolella and Sita Reddy from the University of Southern California; and Shujun Luo and Gary P. Schroth from Illumina Inc.

For more information on this scientific breakthrough, please refer to the article summary published online by Cell: http://www.cell.com/abstract/S0092-8674(12)00885-9.

About Dr. Éric Lécuyer
Éric Lécuyer obtained his PhD in molecular biology from the Université de Montréal. He is an Assistant IRCM Research Professor and Director of the RNA Biology research unit. Dr. Lécuyer is assistant professor-researcher in the Department of Biochemistry at the Université de Montréal. He is also adjunct professor in the Department of Medicine (Division of Experimental Medicine) at McGill University. Dr. Lécuyer is a research scholar from the Fonds de recherche du Québec – Santé. For more information, visit www.ircm.qc.ca/lecuyer.

About the IRCM
Founded in 1967, the Institut de recherches cliniques de Montréal (IRCM) (www.ircm.qc.ca) is currently comprised of 37 research units in various fields, namely immunity and viral infections, cardiovascular and metabolic diseases, cancer, neurobiology and development, systems biology and medicinal chemistry. It also houses three specialized research clinics, eight core facilities and three research platforms with state-of-the-art equipment. The IRCM employs 425 people and is an independent institution affiliated with the Université de Montréal. The IRCM clinic is associated to the Centre hospitalier de l’Université de Montréal (CHUM). The IRCM also maintains a long-standing association with McGill University.

Download the news release as a PDF document
http://www.ircm.qc.ca/Medias/Communiques/Documents/20120912_IRCMRelease
_LecuyerCell.pdf
For more information and to schedule an interview with Dr. Lécuyer, please contact:
Julie Langelier
Communications Officer (IRCM)
julie.langelier@ircm.qc.ca
(514) 987-5555

Lucette Thériault
Communications Director (IRCM)
lucette.theriault@ircm.qc.ca
(514) 987-5535

Julie Langelier | EurekAlert!
Further information:
http://www.ircm.qc.ca

More articles from Health and Medicine:

nachricht Researchers release the brakes on the immune system
18.10.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht Norovirus evades immune system by hiding out in rare gut cells
12.10.2017 | University of Pennsylvania School of Medicine

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Electrode materials from the microwave oven

19.10.2017 | Materials Sciences

New material for digital memories of the future

19.10.2017 | Materials Sciences

Physics boosts artificial intelligence methods

19.10.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>