Featured Research

from universities, journals, and other organizations

Researchers Develop Mouse Model For Poorly Understood Human Myopathy

Date:
September 6, 2006
Source:
University of Minnesota
Summary:
Researchers from the University of Minnesota have identified the importance of a gene critical to normal muscle function, resulting in a new mouse model for a poorly understood muscle disease in humans.

Researchers from the University of Minnesota have identified the importance of a gene critical to normal muscle function, resulting in a new mouse model for a poorly understood muscle disease in humans.

Related Articles


Through techniques in genetic engineering, the researchers "knocked out" the gene in mice that encodes the protein gamma actin, which is a protein found in normal muscle cells. Scientists previously thought that if this gene were absent, muscle development would be seriously impaired. But, James Ervasti, Ph.D., professor of biochemistry, molecular biology and biophysics, and his team found that knocking out gamma actin still allowed for muscle formation in the mice, but impaired muscle cell function, ultimately leading to muscle cell death.

Now researchers have a mouse model for centronuclear myopathy, a very poorly understood muscle disease similar to muscular dystrophy that is characterized by generalized muscle weakness and cramps.

The research is published in the September issue of the journal Developmental Cell.

Gamma actin is a protein that plays an important role in giving muscle cells structure. It binds to dystrophin, a protein in muscle cells that if absent, causes Duchenne muscular dystrophy, a severe form of MD that effects primarily males and results in early death.

Originally, Ervasti thought that when they knocked out the gamma actin gene, the mice would exhibit symptoms similar to Duchenne muscular dystrophy. Instead, when the mice were born, they exhibited symptoms of centronuclear myopathy.

"The availability of this mouse model will provide new insight into a puzzling human muscle disease," according to Kevin Sonnemann, Ph.D., lead author and research associate in the Department of Biochemistry, Molecular Biology and Biophysics.

Now that they know how the lack of the gamma actin gene affects the mice, the researchers will look into the mechanism that causes the muscle cells to die.

This discovery also gives geneticists who study degenerative muscle diseases a new target to study centronuclear myopathy in humans. Since Ervasti's group has identified a likely gene in the mice, geneticists can screen their patients for that specific gene, instead of screening all 30,000 genes to find the mutation.

Researchers from the University of Wisconsin-Madison and the University of Maryland, Baltimore contributed to this study.


Story Source:

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


Cite This Page:

University of Minnesota. "Researchers Develop Mouse Model For Poorly Understood Human Myopathy." ScienceDaily. ScienceDaily, 6 September 2006. <www.sciencedaily.com/releases/2006/09/060905224453.htm>.
University of Minnesota. (2006, September 6). Researchers Develop Mouse Model For Poorly Understood Human Myopathy. ScienceDaily. Retrieved December 22, 2014 from www.sciencedaily.com/releases/2006/09/060905224453.htm
University of Minnesota. "Researchers Develop Mouse Model For Poorly Understood Human Myopathy." ScienceDaily. www.sciencedaily.com/releases/2006/09/060905224453.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

Christmas Kissing Good for Health

Christmas Kissing Good for Health

Reuters - Innovations Video Online (Dec. 22, 2014) Scientists in Amsterdam say couples transfer tens of millions of microbes when they kiss, encouraging healthy exposure to bacteria. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Brain-Dwelling Tapeworm Reveals Genetic Secrets

Brain-Dwelling Tapeworm Reveals Genetic Secrets

Reuters - Innovations Video Online (Dec. 22, 2014) Cambridge scientists have unravelled the genetic code of a rare tapeworm that lived inside a patient's brain for at least four year. Researchers hope it will present new opportunities to diagnose and treat this invasive parasite. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
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

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