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.

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 July 29, 2014 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 July 29, 2014).

Share This




More Plants & Animals News

Tuesday, July 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Ebola Virus Threatens West Africa

Deadly Ebola Virus Threatens West Africa

AP (July 28, 2014) West African nations and international health organizations are working to contain the largest Ebola outbreak in history. It's one of the deadliest diseases known to man, but the CDC says it's unlikely to spread in the U.S. (July 28) Video provided by AP
Powered by NewsLook.com
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
Asteroid's Timing Was 'Colossal Bad Luck' For The Dinosaurs

Asteroid's Timing Was 'Colossal Bad Luck' For The Dinosaurs

Newsy (July 28, 2014) The asteroid that killed the dinosaurs struck at the worst time for them. A new study says that if it hit earlier or later, they might've survived. Video provided by Newsy
Powered by NewsLook.com
Raw: Sea Turtle Hatchlings Emerge from Nest

Raw: Sea Turtle Hatchlings Emerge from Nest

AP (July 27, 2014) A live-streaming webcam catches loggerhead sea turtle hatchlings emerging from a nest in the Florida Keys. (July 27) 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