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 December 22, 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 December 22, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Monday, December 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Touch-Free Smart Phone Empowers Mobility-Impaired

Touch-Free Smart Phone Empowers Mobility-Impaired

Reuters - Innovations Video Online (Dec. 21, 2014) — A touch-free phone developed in Israel enables the mobility-impaired to operate smart phones with just a movement of the head. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Earthworms Provide Cancer-Fighting Bacteria

Earthworms Provide Cancer-Fighting Bacteria

Reuters - Innovations Video Online (Dec. 21, 2014) — Polish scientists isolate bacteria from earthworm intestines which they say may be used in antibiotics and cancer treatments. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Existing Chemical Compounds Could Revive Failing Antibiotics, Says Danish Scientist

Existing Chemical Compounds Could Revive Failing Antibiotics, Says Danish Scientist

Reuters - Innovations Video Online (Dec. 21, 2014) — A team of scientists led by Danish chemist Jorn Christensen says they have isolated two chemical compounds within an existing antipsychotic medication that could be used to help a range of failing antibiotics work against killer bacterial infections, such as Tuberculosis. Jim Drury went to meet him. Video provided by Reuters
Powered by NewsLook.com
Hugging It Out Could Help You Ward Off A Cold

Hugging It Out Could Help You Ward Off A Cold

Newsy (Dec. 21, 2014) — Carnegie Mellon researchers found frequent hugs can help people avoid stress-related illnesses. 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