Featured Research

from universities, journals, and other organizations

Zebrafish help identify mutant gene in rare muscle disease

Date:
June 4, 2013
Source:
University of Michigan
Summary:
Zebrafish with very weak muscles helped scientists decode the elusive genetic mutation responsible for Native American myopathy, a rare, hereditary muscle disease that afflicts Native Americans in North Carolina.

Zebrafish with very weak muscles helped scientists decode the elusive genetic mutation responsible for Native American myopathy, a rare, hereditary muscle disease that afflicts Native Americans in North Carolina.

Scientists led by John Kuwada, professor of molecular, cellular and developmental biology at the University of Michigan, and Hiromi Hirata of the National Institute of Genetics in Japan originally identified the gene in mutant zebrafish that exhibited severe muscle weakness. Native American myopathy causes muscle weakness from birth and other severe problems that can lead to death before adulthood.

The findings appear in the journal Nature Communications.

The responsible gene encodes for a muscle protein called Stac3, which in turn regulates a physiological process required for muscle contraction. The muscles of zebrafish and people with the genetic mutation don't make normal Stac3 protein and the muscles don't contract effectively.

Scientists established the importance of Stac3 for muscle function in zebrafish by studying the small fish physiologically and genetically. Scientists then looked at the human version of the gene, and found that the gene was mutated in people suffering from Native American myopathy.

For many degenerative muscle diseases few drugs help, largely because scientists don't know the genes responsible for many of these muscle diseases, making it difficult to develop drugs and other therapies that target the condition. The discovery of the gene for Native American myopathy, however, may help develop drugs to treat the myopathy, as well as other related muscle diseases.


Story Source:

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


Journal Reference:

  1. Eric J. Horstick, Jeremy W. Linsley, James J. Dowling, Michael A. Hauser, Kristin K. McDonald, Allison Ashley-Koch, Louis Saint-Amant, Akhila Satish, Wilson W. Cui, Weibin Zhou, Shawn M. Sprague, Demetra S. Stamm, Cynthia M. Powell, Marcy C. Speer, Clara Franzini-Armstrong, Hiromi Hirata, John Y. Kuwada. Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy. Nature Communications, 2013; 4 DOI: 10.1038/ncomms2952

Cite This Page:

University of Michigan. "Zebrafish help identify mutant gene in rare muscle disease." ScienceDaily. ScienceDaily, 4 June 2013. <www.sciencedaily.com/releases/2013/06/130604135456.htm>.
University of Michigan. (2013, June 4). Zebrafish help identify mutant gene in rare muscle disease. ScienceDaily. Retrieved September 23, 2014 from www.sciencedaily.com/releases/2013/06/130604135456.htm
University of Michigan. "Zebrafish help identify mutant gene in rare muscle disease." ScienceDaily. www.sciencedaily.com/releases/2013/06/130604135456.htm (accessed September 23, 2014).

Share This



More Health & Medicine News

Tuesday, September 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Costs Keep Mounting

Ebola Costs Keep Mounting

Reuters - Business Video Online (Sep. 23, 2014) The WHO has warned up to 20,000 people could be infected with Ebola over the next few weeks. As Sonia Legg reports, the implications for the West African countries suffering from the disease are huge. Video provided by Reuters
Powered by NewsLook.com
Ebola Cases Could Reach 1.4 Million Within 4 Months

Ebola Cases Could Reach 1.4 Million Within 4 Months

Newsy (Sep. 23, 2014) Health officials warn that without further intervention, the number of Ebola cases in Liberia and Sierra Leone could reach 1.4 million by January. Video provided by Newsy
Powered by NewsLook.com
WHO: Ebola Cases to Triple in Weeks Without Drastic Action

WHO: Ebola Cases to Triple in Weeks Without Drastic Action

AFP (Sep. 23, 2014) The number of Ebola infections will triple to 20,000 by November, soaring by thousands every week if efforts to stop the outbreak are not stepped up radically, the WHO warned in a study on Tuesday. Duration: 01:01 Video provided by AFP
Powered by NewsLook.com
5 Ways Men Can Prevent Most Heart Attacks

5 Ways Men Can Prevent Most Heart Attacks

Newsy (Sep. 23, 2014) No surprise here: A recent study says men can reduce their risk of heart attack by maintaining a healthy lifestyle, which includes daily exercise. 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:

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