Featured Research

from universities, journals, and other organizations

New protein in neurological disorder dystonia discovered

Date:
May 6, 2014
Source:
Kansas State University
Summary:
The protein BiP plays a key role in a genetic mutation that is affiliated with early onset torsion dystonia, researchers have found. Their findings may lead to the first universal treatment for the neurological disorder, which affects nearly half a million Americans. "It's a painful and debilitating disease for which there is no cure or treatment that would be effective for all patients," one researcher said.

A collaborative discovery involving Kansas State University researchers may lead to the first universal treatment for dystonia, a neurological disorder that affects nearly half a million Americans.

Related Articles


Michal Zolkiewski, associate professor of biochemistry and molecular biophysics at Kansas State University, and Jeffrey Brodsky at the University at Pittsburgh co-led a study that focused on a mutated protein associated with early onset torsion dystonia, or EOTD, the most severe type of dystonia that typically affects adolescents before the age of 20. Dystonia causes involuntary and sustained muscle contractions that can lead to paralysis and abnormal postures.

"It's a painful and debilitating disease for which there is no cure or treatment that would be effective for all patients," Zolkiewski said. "There are some treatments that are being tested, but nothing is really available to those patients that would cure the symptoms completely."

In addition to Zolkiewski and Brodsky, researchers involved in the study included Hui-Chuan Wu, Kansas State University doctoral student in biochemistry and molecular biophysics, Taiwan, and colleagues at the University of Texas Southwestern Medical Center and the University of Adelaide in Australia.

The Journal of Biological Chemistry recently published the team's study, "The BiP molecular chaperone plays multiple roles during the biogenesis of TorsinA, a AAA+ ATPase associated with the neurological disease Early-Onset Torsion Dystonia." The study was funded by the Dystonia Medical Research Foundation.

Researchers built the study on a decade-old discovery that patients with early onset torsion dystonia typically have a mutated gene that encodes the protein TorsionA.

"TorsinA is a protein that all people have in their bodies," Zolkiewski said. "It appears to perform an important role in the nervous system, but currently nobody knows what that role is. There also is no understanding of the link between the mutation and dystonia."

In order to study protein expression in a living organism, researchers used yeast -- one of the simplest living systems. The yeast was engineered to produce the human protein TorsionA.

Observations revealed that a second protein named BiP -- pronounced "dip" -- helps process the TorsinA protein and maintain its active form. Additionally, researchers found that BiP also guides TorsinA to being destroyed by cells if the protein is defective. Humans carry the BiP protein as well as the TorsinA protein.

"BiP is a molecular chaperone that assists other proteins in maintaining their function," Zolkiewski said. "In this study we found that BiP really has a dual role. On one hand it's helping TorsinA and on the other it's leading to its degradation."

Future studies may focus on BiP as a target for treating dystonia, as modulating BiP in human cells would affect TorsinA, Zolkiewski said.

"Because we don't know what exactly the function of TorsinA is, we may not be able to design a treatment based on that protein," Zolkiewski said. "We know what BiP does, however. It is a pretty well-studied chaperone, which makes it much easier to work with."


Story Source:

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


Journal Reference:

  1. L. F. Zacchi, H.-C. Wu, S. L. Bell, L. Millen, A. W. Paton, J. C. Paton, P. J. Thomas, M. Zolkiewski, J. L. Brodsky. The BiP Molecular Chaperone Plays Multiple Roles during the Biogenesis of TorsinA, an AAA ATPase Associated with the Neurological Disease Early-onset Torsion Dystonia. Journal of Biological Chemistry, 2014; 289 (18): 12727 DOI: 10.1074/jbc.M113.529123

Cite This Page:

Kansas State University. "New protein in neurological disorder dystonia discovered." ScienceDaily. ScienceDaily, 6 May 2014. <www.sciencedaily.com/releases/2014/05/140506130253.htm>.
Kansas State University. (2014, May 6). New protein in neurological disorder dystonia discovered. ScienceDaily. Retrieved November 26, 2014 from www.sciencedaily.com/releases/2014/05/140506130253.htm
Kansas State University. "New protein in neurological disorder dystonia discovered." ScienceDaily. www.sciencedaily.com/releases/2014/05/140506130253.htm (accessed November 26, 2014).

Share This


More From ScienceDaily



More Mind & Brain News

Wednesday, November 26, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Are Female Bosses More Likely To Be Depressed?

Are Female Bosses More Likely To Be Depressed?

Newsy (Nov. 24, 2014) A new study links greater authority with increased depressive symptoms among women in the workplace. Video provided by Newsy
Powered by NewsLook.com
Winter Can Cause Depression — Here's How To Combat It

Winter Can Cause Depression — Here's How To Combat It

Newsy (Nov. 23, 2014) Millions of American suffer from seasonal depression every year. It can lead to adverse health effects, but there are ways to ease symptoms. Video provided by Newsy
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Milestone Birthdays Can Bring Existential Crisis, Study Says

Milestone Birthdays Can Bring Existential Crisis, Study Says

Newsy (Nov. 21, 2014) Researchers find that as people approach new decades in their lives they make bigger life decisions. 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