Navigation Links
New knowledge about muscular dystrophy
Date:5/5/2014

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 characterised by accumulating toxic aggregates of ribonucleic acids (RNA) from a specific mutated gene (see figure 1).

When this RNA, which contains thousands of CUG nucleotide repeats, builds up in the cell, it attracts several cellular proteins, including muscleblind 1 (MBNL1) (see figure 2, left). 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 characterisation in muscular dystrophy patients

The researchers work at the Department of Molecular Biology and Genetics and the Department of Biomedicine, Aarhus University, where they characterised 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 (see figure 2, right). 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.


'/>"/>

Contact: Christian K. Damgaard
cd@mb.au.dk
45-29-70-05-99
Aarhus University
Source:Eurekalert  

Related medicine news :

1. Pre-test genetic counseling increases cancer knowledge for BRCA patients
2. The Hong Kong Polytechnic University promotes knowledge enterprises through MAKE Award
3. The HearStrong Foundation Launches Nationwide to Acknowledge the Accomplishments of Those with Hearing Loss
4. HeatTechProducts.com to Launch Online Knowledge Center
5. Racial Gap Persists in Womens Heart Health Knowledge: Survey
6. Three Leading Telecommunications and Technology Organizations Sponsor the AG Bell Listening and Spoken Language Knowledge Center
7. Studies advance knowledge of HIV impact on hepatitis C infection and genes that may thwart HCV
8. Passages Malibu Acknowledges the Growing Popularity of “Molly” Among Teens
9. Can Genital Herpes Spread in the Body? polyDNA Surveys the Public Knowledge
10. Its a sure thing: Knowledge of the game is not an advantage in sports gambling
11. Jvion Launches The ICD-10 Knowledge Exchange on Google+
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
New knowledge about muscular dystrophy
(Date:6/25/2016)... ... 2016 , ... Conventional wisdom preaches the benefits of moderation, whether it’s a ... the bar too high can result in disappointment, perhaps even self-loathing. However, those who ... , Research from PsychTests.com reveals that behind the tendency to set ...
(Date:6/24/2016)... ... 2016 , ... June 19, 2016 is World Sickle Cell Observance Day. In ... benefits of holistic treatments, Serenity Recovery Center of Marne, Michigan, has issued ... Sickle Cell Disease (SCD) is a disorder of the red blood cells, which can ...
(Date:6/24/2016)... ... ... Global law firm Greenberg Traurig, P.A. announced that 20 Florida attorneys are recognized ... this recognition are considered among the top 2 percent of lawyers practicing within the ... this year’s Legal Elite Hall of Fame: Miami Shareholders Mark D. Bloom, Burt ...
(Date:6/24/2016)... ... 24, 2016 , ... Topical BioMedics, Inc, makers of Topricin and MyPainAway Pain Relief Products, join ... wage raise to $12 an hour by 2020 and then adjusting it yearly to increase ... of the minimum wage, assure the wage floor does not erode again, and make future ...
(Date:6/24/2016)... , ... June 24, 2016 , ... ... is proud to recognize Dr. Barry M. Weintraub as a prominent plastic surgeon ... beautiful women in the world, and the most handsome men, look naturally attractive. ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... , June 27, 2016 Jazz Pharmaceuticals ... waiting period under the Hart-Scott-Rodino Antitrust Improvements Act of ... acquisition of Celator Pharmaceuticals, Inc. ("Celator"; Nasdaq: ... p.m. (Eastern Daylight Time). As previously announced ... into a definitive merger agreement under which Jazz Pharmaceuticals ...
(Date:6/24/2016)... SOUTH SAN FRANCISCO, Calif. , June 24, ... GBT ), a biopharmaceutical company developing novel ... with significant unmet needs, today announced the closing ... 6,400,000 shares of common stock, at the public ... the shares in the offering were offered by ...
(Date:6/24/2016)... June 24, 2016 Dehaier Medical Systems Ltd. ... which develops, markets and sells medical devices and wearable ... signed a strategic cooperation agreement with Hongyuan Supply Chain ... Chain") on June 20, 2016, to develop Dehaier,s new ... cooperation agreement, Dehaier will leverage Hongyuan Supply Chain,s sales ...
Breaking Medicine Technology: