Featured Research

from universities, journals, and other organizations

New knowledge about muscular dystrophy uncovered

Date:
May 5, 2014
Source:
Aarhus University
Summary:
A previously unknown function of a cellular enzyme that can disperse toxic aggregates in the cells of patients with muscular dystrophy has been uncovered by researchers. The most common form of muscular dystrophy among adults is dystrophia myotonica type 1 (DM1), where approximately 1 in every 8000 is affected by the disease. The severity of the disease varies from mild forms to severe congenital forms. It is dominantly inherited and accumulates through generations, gaining increased severity and lowered age of onset.

The research team behind the new results of muscular dystrophy (from left): Thomas G. Jensen, Rune Thomsen, Olof Pettersson, Lars Aagaard og Christian Damgaard (Diana Andrejeva is missing in the photo).
Credit: Lisbeth Heilesen

The most common form of muscular dystrophy among adults is dystrophia myotonica type 1 (DM1), where approximately 1 in every 8000 is affected by the disease. The severity of the disease varies from mild forms to severe congenital forms. It is dominantly inherited and accumulates through generations, gaining increased severity and lowered age of onset. DM1 is characterized by accumulating toxic aggregates of ribonucleic acids (RNA) from a specific mutated gene.

When this RNA, which contains thousands of CUG nucleotide repeats, builds up in the cell, it attracts several cellular proteins, including muscleblind 1 (MBNL1). This binding inhibits the normal function of MBNL1, which means that the cellular level of a number of specific proteins becomes deregulated and the disease develops.

Enzyme characterization in muscular dystrophy patients

The researchers work at the Department of Molecular Biology and Genetics and the Department of Biomedicine, Aarhus University, where they characterized an enzyme called DDX6, found in both normal cells and cells from muscular dystrophy patients.

The enzyme constantly tries to disperse the toxic aggregates and release MBNL1 in cells from muscular dystrophy patients, which means that the protein can carry out its normal function. The enzyme is found in many different cell types, where it performs a number of vital functions. The researchers showed that an artificial increase in the level of DDX6 in muscular dystrophy cells reduces the number of RNA aggregates, while more are formed when DDX6 is removed from the cells.

DDX6 belongs to a class of enzymes called helicases, which can change RNA structure and also regulate the ability of proteins to bind RNA. By purifying DDX6 from human cells, the researchers succeeded in getting the enzyme to bind and carry out an enzymatic reaction outside the cell, thus changing the structure of the toxic RNA.

These results indicate that DDX6 has a direct impact on toxic RNA aggregation in cells from muscular dystrophy patients in addition to its normal functions.

It remains unlikely that DDX6 can be used directly in the treatment of muscular dystrophy, since the enzyme carries out a number of important processes in the cell, which could potentially become deregulated leading to other diseases. However, the results provide important insights into the basic mechanisms of the disease, and natural differences in enzyme levels in different types of cells (or individuals) could possibly explain observed tissue-specific differences in the development of the disease.


Story Source:

The above story is based on materials provided by Aarhus University. The original article was written by Lisbeth Heilesen. Note: Materials may be edited for content and length.


Journal Reference:

  1. O. J. Pettersson, L. Aagaard, D. Andrejeva, R. Thomsen, T. G. Jensen, C. K. Damgaard. DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1. Nucleic Acids Research, 2014; DOI: 10.1093/nar/gku352

Cite This Page:

Aarhus University. "New knowledge about muscular dystrophy uncovered." ScienceDaily. ScienceDaily, 5 May 2014. <www.sciencedaily.com/releases/2014/05/140505104355.htm>.
Aarhus University. (2014, May 5). New knowledge about muscular dystrophy uncovered. ScienceDaily. Retrieved October 20, 2014 from www.sciencedaily.com/releases/2014/05/140505104355.htm
Aarhus University. "New knowledge about muscular dystrophy uncovered." ScienceDaily. www.sciencedaily.com/releases/2014/05/140505104355.htm (accessed October 20, 2014).

Share This



More Health & Medicine News

Monday, October 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Microneedle Patch Promises Painless Pricks

Microneedle Patch Promises Painless Pricks

Reuters - Innovations Video Online (Oct. 18, 2014) Researchers at The National University of Singapore have invented a new microneedle patch that could offer a faster and less painful delivery of drugs such as insulin and painkillers. Video provided by Reuters
Powered by NewsLook.com
Raw: Nurse Nina Pham Arrives in Maryland

Raw: Nurse Nina Pham Arrives in Maryland

AP (Oct. 17, 2014) The first nurse to be diagnosed with Ebola at a Dallas hospital walked down the stairs of an executive jet into an ambulance at an airport in Frederick, Maryland, on Thursday. Pham will be treated at the National Institutes of Health. (Oct. 16) Video provided by AP
Powered by NewsLook.com
Raw: Cruise Ship Returns to US Over Ebola Fears

Raw: Cruise Ship Returns to US Over Ebola Fears

AP (Oct. 17, 2014) A Caribbean cruise ship carrying a Dallas health care worker who is being monitored for signs of the Ebola virus is heading back to Texas, US, after being refused permission to dock in Cozumel, Mexico. (Oct. 17) Video provided by AP
Powered by NewsLook.com
Spanish Govt: Four Suspected Ebola Cases in Spain Test Negative

Spanish Govt: Four Suspected Ebola Cases in Spain Test Negative

AFP (Oct. 17, 2014) All four suspected Ebola cases admitted to hospitals in Spain on Thursday have tested negative for the deadly virus in a first round of tests, the government said Friday. Duration: 00:55 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins