Featured Research

from universities, journals, and other organizations

Enzyme replacement therapy shows promising results in X-linked myotubular myopathy

Date:
January 22, 2013
Source:
Medical College of Wisconsin
Summary:
Pediatric neuropathologisst successfully mitigated some of the effects of a muscular disease by using a new targeted enzyme replacement therapy strategy.

A collaborative research team including a Medical College of Wisconsin (MCW) pediatric neuropathologist successfully mitigated some of the effects of a muscular disease by using a new targeted enzyme replacement therapy strategy from 4s3 Bioscience.

The findings are published in the January edition of Human and Molecular Genetics.

X-linked myotubular myopathy (XLMTM) is a severe muscle disease caused by an absence of a protein called myotubularin. There is currently no treatment for this disorder, and most patients die in infancy or childhood. The overall incidence of myotubular myopathy is 1 in 50,000 live male births.

Michael W. Lawlor, M.D., Ph.D., assistant professor of pathology at MCW, researcher at the Children's Hospital of Wisconsin Research Institute, and director of the pediatric pathology neuromuscular laboratory in MCW's division of pediatric pathology, coordinated a study at Boston Children's Hospital and MCW that used targeted enzyme replacement therapy to deliver myotubularin to muscles of mice with XLMTM. After two weeks of treatment, the mice showed marked improvement in muscle function and pathology.

"These promising findings suggest that even low levels of myotubularin protein replacement can not only improve weakness in patients, but also at least partially reverse the structural abnormalities seen in XLMTM," said Dr. Lawlor. "The next step is to determine appropriate dosage, and toxicity, before we venture into human trials," he continued.


Story Source:

The above story is based on materials provided by Medical College of Wisconsin. Note: Materials may be edited for content and length.


Journal Reference:

  1. M. W. Lawlor, D. Armstrong, M. G. Viola, J. J. Widrick, H. Meng, R. W. Grange, M. K. Childers, C. P. Hsu, M. O'Callaghan, C. R. Pierson, A. Buj-Bello, A. H. Beggs. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Human Molecular Genetics, 2013; DOI: 10.1093/hmg/ddt003

Cite This Page:

Medical College of Wisconsin. "Enzyme replacement therapy shows promising results in X-linked myotubular myopathy." ScienceDaily. ScienceDaily, 22 January 2013. <www.sciencedaily.com/releases/2013/01/130122111759.htm>.
Medical College of Wisconsin. (2013, January 22). Enzyme replacement therapy shows promising results in X-linked myotubular myopathy. ScienceDaily. Retrieved July 28, 2014 from www.sciencedaily.com/releases/2013/01/130122111759.htm
Medical College of Wisconsin. "Enzyme replacement therapy shows promising results in X-linked myotubular myopathy." ScienceDaily. www.sciencedaily.com/releases/2013/01/130122111759.htm (accessed July 28, 2014).

Share This




More Health & Medicine News

Monday, July 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Traditional African Dishes Teach Healthy Eating

Traditional African Dishes Teach Healthy Eating

AP (July 28, 2014) Classes are being offered nationwide to encourage African Americans to learn about cooking fresh foods based on traditional African cuisine. The program is trying to combat obesity, heart disease and other ailments often linked to diet. (July 28) Video provided by AP
Powered by NewsLook.com
West Africa Gripped by Deadly Ebola Outbreak

West Africa Gripped by Deadly Ebola Outbreak

AFP (July 28, 2014) The worst-ever outbreak of the deadly Ebola epidemic grips west Africa, killing hundreds. Duration: 00:48 Video provided by AFP
Powered by NewsLook.com
Trees Could Save More Than 850 Lives Each Year

Trees Could Save More Than 850 Lives Each Year

Newsy (July 27, 2014) A national study conducted by the USDA Forest Service found that trees collectively save more than 850 lives on an annual basis. Video provided by Newsy
Powered by NewsLook.com
Google's Next Frontier: The Human Body

Google's Next Frontier: The Human Body

Newsy (July 27, 2014) Google is collecting genetic and molecular information to paint a picture of the perfectly healthy human. 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:
from the past week

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