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 September 16, 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 September 16, 2014).

Share This



More Health & Medicine News

Tuesday, September 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

President To Send 3,000 Military Personnel To Fight Ebola

President To Send 3,000 Military Personnel To Fight Ebola

Newsy (Sep. 16, 2014) President Obama is expected to send 3,000 troops to West Africa as part of the effort to contain Ebola's spread. Video provided by Newsy
Powered by NewsLook.com
Man Floats for 31 Hours in Gulf Waters

Man Floats for 31 Hours in Gulf Waters

AP (Sep. 16, 2014) A Texas man is lucky to be alive after he and three others floated for more than a day in the Gulf of Mexico when their boat sank during a fishing trip. (Sept. 16) Video provided by AP
Powered by NewsLook.com
Ivorians Abandon Monkey Pets in Fear Over Ebola Virus

Ivorians Abandon Monkey Pets in Fear Over Ebola Virus

AFP (Sep. 16, 2014) Since the arrival of Ebola in Ivory Coast, Ivorians have been abandoning their pets, particularly monkeys, in the fear that they may transmit the virus. Duration: 00:47 Video provided by AFP
Powered by NewsLook.com
Study Links Male-Pattern Baldness To Prostate Cancer

Study Links Male-Pattern Baldness To Prostate Cancer

Newsy (Sep. 16, 2014) New findings suggest men with a certain type of baldness at age 45 are 39 percent more likely to develop aggressive prostate cancer. 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