Navigation Links
An important breakthrough in the fight against muscular dystrophies
Date:9/12/2012

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. ric Lcuyer, 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. Lcuyer'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.


'/>"/>
Contact: Julie Langelier
julie.langelier@ircm.qc.ca
514-987-5555
Institut de recherches cliniques de Montreal
Source:Eurekalert

Related biology news :

1. Improved Authentication and Confidentiality Protection. ICAP Patent Brokerage Announces for Auction Important Patents in Data Encryption and Document Security
2. Misperception of weight is an important barrier to weight loss
3. Zip code as important as genetic code in childhood obesity
4. Geneticist develops tool to identify genes important in disease, tailoring individual treatment
5. Overweight? New research explains how proper sleep is important for healthy weight
6. Wildfire and an example of its important link to the ecosystem
7. University of Miami-led study finds winds played important role in keeping oil away from S. Fla.
8. Large, medically important class of proteins starts to yield its secrets
9. It must be important but what does it do? The strange case of UCP2
10. Reciprocity an important component of prosocial behavior
11. New research: Soluble corn fiber plays important role in gut health and calcium absorption
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/28/2016)... GOTHENBURG, Sweden , April 28, 2016 ... 1,491.2 M (139.9), up 966% compared with the first quarter of ... Operating profit totaled SEK 589.1 M (loss: 18.8) and the operating ... SEK 7.12 (loss: 0.32) Cash flow from operations was ... , The 2016 revenue guidance is unchanged, SEK 7,000-8,500 M. ...
(Date:4/15/2016)... 2016 Research and Markets has ... Market 2016-2020,"  report to their offering.  , ... ,The global gait biometrics market is expected to ... period 2016-2020. Gait analysis generates multiple ... used to compute factors that are not or ...
(Date:3/29/2016)... 2016 LegacyXChange, Inc. (OTC: ... SelectaDNA/CSI Protect are pleased to announce our successful effort ... variety of writing instruments, ensuring athletes signatures against counterfeiting ... from athletes on LegacyXChange will be assured of ongoing ... Bill Bollander , CEO states, "By ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... BOSTON , June 27, 2016   Ginkgo ... biology to industrial engineering, was today awarded as ... a selection of the world,s most innovative companies. ... at scale for the real world in the ... organism engineers work directly with customers including Fortune ...
(Date:6/24/2016)... ... June 24, 2016 , ... While the majority of commercial spectrophotometers and fluorometers ... the 6000i models are higher end machines that use the more unconventional z-dimension of ... beam from the bottom of the cuvette holder. , FireflySci has developed several ...
(Date:6/23/2016)... WI (PRWEB) , ... June 23, 2016 , ... ... supplements, is pleased to announce the launch of their brand, UP4™ Probiotics, into ... for over 35 years, is proud to add Target to its list of ...
(Date:6/23/2016)... SILVER SPRING, Md. , June 23, 2016 ... evidence collected from the crime scene to track the criminal ... sick, and the U.S. Food and Drug Administration (FDA) uses ... Sound far-fetched? It,s not. ... whole genome sequencing to support investigations of foodborne illnesses. Put ...
Breaking Biology Technology: