Featured Research

from universities, journals, and other organizations

New Hope For Treating Common Form Of Inherited Neuromuscular Disease

Date:
September 3, 2008
Source:
Cell Press
Summary:
Treatments that ramp up production of the tiny "motors" that power cells may have promise for treating one of the most common forms of inherited neuromuscular disease, according to a new report.

Treatments that ramp up production of the tiny "motors" that power cells may have promise for treating one of the most common forms of inherited neuromuscular disease, according to a report in the September Cell Metabolism.

Neuromuscular disorders caused by defects in those mitochondrial motors affect a large number of children and adults worldwide, but today remain without treatment, the researchers said.

The researchers now show in mice with a muscular defect in mitochondria function that treatments designed to increase the number of mitochondria can improve symptoms of muscle weakness and enhance survival. Those treatments work by enhancing the activity of so-called peroxisome proliferator-activated receptor ? (PPAR?) coactivator a (PGC-1a), a master regulator of metabolism known to play an important role in the production of mitochondria.

" The idea was that in the mice and in patients with these disorders, there is still residual activity of the defective mitochondrial enzymes," said Carlos Moraes of the University of Miami School of Medicine. "If per cell there were more mitochondria, each with that same residual activity, would it improve clinical symptoms?," he asked.

"That's exactly what happened in the mice," he said. "With more mitochondria, the myopathy was milder and the mice lived longer without symptoms." Myopathy refers to any neuromuscular disease in which muscle fibers fail to function properly, resulting in muscle weakness.

In the mice with mitochondrial myopathy, the researchers induced mitochondria production in two ways: through genetic modifications that increased PGC-1a in skeletal muscle and by giving them a drug called bezafibrate that is already FDA-approved for the treatment of metabolic disorders, including elevated lipids (hyperlipidemia), diabetes and metabolic syndrome. Bezafibrate activates PGC-1a along with other peroxisome proliferator activated receptors (PPARs).

Both treatment approaches resulted in longer life span for the mice and delayed the onset of their disease, they report. That effect most likely stemmed from an increase in mitochondria. In some cases they found mitochondria in the muscle increased by as much as four or five times, Moraes said.

Mice with the impaired mitochondria typically live only three or four months, he said. The transgenic PGC-1a mice lived for about one year and some for as long as 22 months. Those treated with bezafibrate therapy lived for at least six months, they found.

The treated animals also showed stronger performances on a treadmill. Untreated mice with the mitochondrial defect begin to fall on treadmill tests at three months of age. The PGC-1 a transgenic mice with myopathy didn't show signs of falling until seven months. Those taking the drug showed a better treadmill performance at six months than the untreated mice did at three months.

" Controlling the expression of PGC-1a and the PPARs might offer a novel treatment strategy not only to mitochondrial myopathies, but also other mitochondrial diseases," the researchers conclude from their findings. "The promising results with the bezafibrate-fed myopathy mice clearly identify small-molecule PPAR agonists, already used in humans with metabolic disorders as a treatment option for mitochondrial diseases."

While the results are promising, Moraes cautioned that there are potential side effects of bezafibrate that need to be examined. He said he hopes a clinical trial to find out how well they might work in patients with mitochondrial disorders will begin soon. They are also doing studies to test whether a similar treatment might have potential for treating mitochondrial disorders of the brain as well.

The researchers include Tina Wenz, University of Miami, School of Medicine, Miami, FL; Francisca Diaz, University of Miami, School of Medicine, Miami, FL; Bruce M. Spiegelman, Dana-Farber Cancer Institute and the Department of Cell Biology, Harvard Medical School, Boston, MA; and Carlos T. Moraes, University of Miami, School of Medicine, Miami, FL.


Story Source:

The above story is based on materials provided by Cell Press. Note: Materials may be edited for content and length.


Cite This Page:

Cell Press. "New Hope For Treating Common Form Of Inherited Neuromuscular Disease." ScienceDaily. ScienceDaily, 3 September 2008. <www.sciencedaily.com/releases/2008/09/080902122836.htm>.
Cell Press. (2008, September 3). New Hope For Treating Common Form Of Inherited Neuromuscular Disease. ScienceDaily. Retrieved April 24, 2014 from www.sciencedaily.com/releases/2008/09/080902122836.htm
Cell Press. "New Hope For Treating Common Form Of Inherited Neuromuscular Disease." ScienceDaily. www.sciencedaily.com/releases/2008/09/080902122836.htm (accessed April 24, 2014).

Share This



More Health & Medicine News

Thursday, April 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Fungus Killing Bats, Spreading in US

Deadly Fungus Killing Bats, Spreading in US

AP (Apr. 24, 2014) A disease that has killed more than six million cave-dwelling bats in the United States is on the move and wildlife biologists are worried. White Nose Syndrome, discovered in New York in 2006, has now spread to 25 states. (April 24) Video provided by AP
Powered by NewsLook.com
Companies Ramp Up Wellness to Lower Health Costs

Companies Ramp Up Wellness to Lower Health Costs

AP (Apr. 24, 2014) That little voice telling you to exercise, get in shape and get healthy is probably coming from your boss. More companies are beefing up wellness programs to try and cut down their health care costs. (April 24) Video provided by AP
Powered by NewsLook.com
FDA Wants To Ban Sales Of E-Cigarettes To Minors

FDA Wants To Ban Sales Of E-Cigarettes To Minors

Newsy (Apr. 24, 2014) The Food and Drug Administration wants to crack down on the use of e-cigarettes, banning the sale of the product to minors. Video provided by Newsy
Powered by NewsLook.com
Michigan Man Sees Thanks to 'bionic Eye'

Michigan Man Sees Thanks to 'bionic Eye'

AP (Apr. 23, 2014) A legally blind Michigan man is 'seeing something new every day' thanks to a high-tech retinal implant procedure. He's one of the first in the country to receive a 'bionic eye' since the federal government approved the surgery. (April 23) Video provided by AP
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