Featured Research

from universities, journals, and other organizations

New mouse models generated for MYH9 genetic disorders

Date:
March 10, 2011
Source:
American Institute of Physics
Summary:
Researchers have created the first mouse models of human MYH9 genetic disorders, which cause several problems -- including enlarged platelets and sometimes fatal kidney disease.

Researchers have created the first mouse models of human MYH9 genetic disorders, which cause several problems -- including enlarged platelets and sometimes fatal kidney disease.

Related Articles


The MYH9 gene makes non-muscle myosin II-A protein. This protein plays a critical role in helping cells move to their correct home during embryonic development. Later in life, the protein continues its involvement in cell migration, cell-cell adhesion and also in maintaining cell shape, says Yingfan Zhang, Ph.D., a postdoctoral fellow at the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health.

Zhang, with the NHLBI's Laboratory of Molecular Cardiology, has focused on three of the more than forty MYH9 mutations identified in humans. One of the mutations impaired myosin's motor activity, while the other two affected the protein's ability to form filaments.

In work she will present March 9 at the 55th Annual Biophysical Society Annual Meeting in Baltimore, MD, Zhang generated specific mutations in the MYH9 gene, then bred mice with one or two copies of the impaired gene. While mice with two copies of the gene causing motor impairment died as embryos, those with one mutated gene showed symptoms similar to humans. The filament forming impaired mice showed symptoms with both one and two mutant genes.

Inactivation of the MYH9 gene in humans causes a disorder called the May-Hegglin anomaly (MHA), a rare genetic disorder of the blood platelets that causes them to be abnormally large and also causes abnormalities known as Dohle bodies in leukocytes. Mutations of the MYH9 are also associated with kidney disease in humans.

"The mice had very, very large platelets, exactly like humans, and those platelets didn't work very well," says senior author Robert Adelstein,M.D. also with the NHLBI's Laboratory of Molecular Cardiology. "The mice also developed kidney disease."

The mouse models will help scientists better understand MYH9 disorders in humans, Adelstein says. "Now we can study the development of the disease in real-time, and try to figure out what has gone wrong and why the gene product has led to these defects."

This work was sponsored by the National Heart, Lung, and Blood Institute, one of the National Institutes of Health.


Story Source:

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


Cite This Page:

American Institute of Physics. "New mouse models generated for MYH9 genetic disorders." ScienceDaily. ScienceDaily, 10 March 2011. <www.sciencedaily.com/releases/2011/03/110309112858.htm>.
American Institute of Physics. (2011, March 10). New mouse models generated for MYH9 genetic disorders. ScienceDaily. Retrieved March 29, 2015 from www.sciencedaily.com/releases/2011/03/110309112858.htm
American Institute of Physics. "New mouse models generated for MYH9 genetic disorders." ScienceDaily. www.sciencedaily.com/releases/2011/03/110309112858.htm (accessed March 29, 2015).

Share This


More From ScienceDaily



More Plants & Animals News

Sunday, March 29, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

New Arthropod Fossil Might Be Relative Of Spiders, Scorpions

New Arthropod Fossil Might Be Relative Of Spiders, Scorpions

Newsy (Mar. 29, 2015) A 508-million-year-old arthropod that swam in the Cambrian seas is thought to share a common ancestor with spiders and scorpions. Video provided by Newsy
Powered by NewsLook.com
Vietnam Rice Boom Piles Pressure on Farmers and the Environment

Vietnam Rice Boom Piles Pressure on Farmers and the Environment

AFP (Mar. 29, 2015) Vietnam&apos;s drive to become the world&apos;s leading rice exporter is pushing farmers in the fertile Mekong Delta to the brink, say experts, with mounting costs to the environment. Duration: 02:35 Video provided by AFP
Powered by NewsLook.com
Raw: Lioness Has Rare Five-Cub Litter

Raw: Lioness Has Rare Five-Cub Litter

AP (Mar. 27, 2015) A lioness in Pakistan has given birth to five cubs, twice the usual size of a litter. Queen gave birth to two other cubs just nine months ago. (March 27) Video provided by AP
Powered by NewsLook.com
Jockey Motion Tracking Reveals Racing Prowess

Jockey Motion Tracking Reveals Racing Prowess

Reuters - Innovations Video Online (Mar. 26, 2015) Using motion tracking technology, researchers from the Royal Veterinary College (RVC) are trying to establish an optimum horse riding style to train junior jockeys, as well as enhance safety, health and well-being of both racehorses and jockeys. Matthew Stock 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


Plants & Animals

Earth & Climate

Fossils & Ruins

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