Featured Research

from universities, journals, and other organizations

New hope in fight against muscular dystrophy

Date:
August 21, 2014
Source:
KTH The Royal Institute of Technology
Summary:
Hope for those who suffer from Duchenne muscular dystrophy, an incurable, debilitating disease that cuts young lives short, can be gained by new research. Duchenne muscular dystrophy results from a lack, or impaired function, of the protein dystrophin, a major component of muscles. Dystrophin plays a significant role in, among other things, cardiovascular functioning.

Research at Stockholm's KTH Royal Institute of Technology offers hope to those who suffer from Duchenne muscular dystrophy, an incurable, debilitating disease that cuts young lives short.

Related Articles


An international team that includes KTH researchers Christina Al-Khalili Szigyarto and Mathias Uhlén report that they discovered how to create a variant of dystrophin that can mitigate muscle atrophy. This could in turn lead to the development of new therapies for muscular dystrophy.

The research was published this month in Nature Medicine.

Duchenne muscular dystrophy results from a lack, or impaired function, of the protein dystrophin, a major component of muscles. Dystrophin plays a significant role in, among other things, cardiovascular functioning.

The incurable disease causes a progressive degeneration process of the muscles, resulting in decreased mobility, breathing problems, heart failure and, ultimately, a premature death.

Uhlén, a professor of microbiology at KTH, says the research team demonstrated the presence of so-called native and truncated dystrophin with the help of HPA antibodies in muscle.

"Then the protein is run through a gel, extracted and sequenced by mass spectrometry," Uhlén says. "The resulting sequences of the native and the truncated dystrophin protein have been compared on the level of amino acid.

"We have been able to demonstrate that in comparison with healthy people, the patients in the study manufacture a shorter version of the dystrophin protein despite a severe mutation in the dystrophin gene."


Story Source:

The above story is based on materials provided by KTH The Royal Institute of Technology. Note: Materials may be edited for content and length.


Journal Reference:

  1. Nicolas Wein, Adeline Vulin, Maria S Falzarano, Christina Al-Khalili Szigyarto, Baijayanta Maiti, Andrew Findlay, Kristin N Heller, Mathias Uhlén, Baskar Bakthavachalu, Sonia Messina, Giuseppe Vita, Chiara Passarelli, Francesca Gualandi, Steve D Wilton, Louise R Rodino-Klapac, Lin Yang, Diane M Dunn, Daniel R Schoenberg, Robert B Weiss, Michael T Howard, Alessandra Ferlini, Kevin M Flanigan. Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nature Medicine, 2014; DOI: 10.1038/nm.3628

Cite This Page:

KTH The Royal Institute of Technology. "New hope in fight against muscular dystrophy." ScienceDaily. ScienceDaily, 21 August 2014. <www.sciencedaily.com/releases/2014/08/140821102111.htm>.
KTH The Royal Institute of Technology. (2014, August 21). New hope in fight against muscular dystrophy. ScienceDaily. Retrieved November 27, 2014 from www.sciencedaily.com/releases/2014/08/140821102111.htm
KTH The Royal Institute of Technology. "New hope in fight against muscular dystrophy." ScienceDaily. www.sciencedaily.com/releases/2014/08/140821102111.htm (accessed November 27, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, November 27, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Pet Dogs to Be Used in Anti-Ageing Trial

Pet Dogs to Be Used in Anti-Ageing Trial

Reuters - Innovations Video Online (Nov. 26, 2014) — Researchers in the United States are preparing to discover whether a drug commonly used in human organ transplants can extend the lifespan and health quality of pet dogs. Video provided by Reuters
Powered by NewsLook.com
Today's Prostheses Are More Capable Than Ever

Today's Prostheses Are More Capable Than Ever

Newsy (Nov. 26, 2014) — Advances in prosthetics are making replacement body parts stronger and more lifelike than they’ve ever been. Video provided by Newsy
Powered by NewsLook.com
From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

Newsy (Nov. 25, 2014) — The US FDA is announcing new calorie rules on Tuesday that will require everywhere from theaters to vending machines to include calorie counts. Video provided by Newsy
Powered by NewsLook.com
Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Newsy (Nov. 25, 2014) — Need another reason to eat yogurt every day? Researchers now say it could reduce a person's risk of developing type 2 diabetes. Video provided by Newsy
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