Featured Research

from universities, journals, and other organizations

Disease-causing mutation disrupts movement of cell's 'power house'

Date:
March 30, 2010
Source:
Society for Neuroscience
Summary:
New research shows how a mutation causes a common inherited neurodegenerative disease. The study shows that the mutation of a specific protein known to cause Charcot-Marie-Tooth disrupts the movement of mitochondria, the energy-supplying machines inside each cell. The regulated movement of mitochondria along nerve cell fibers is vital to normal communication between the brain and muscles.

New research shows how a mutation causes a common inherited neurodegenerative disease, according to a study in the March 24 issue of The Journal of Neuroscience. The study shows that the mutation of a specific protein known to cause Charcot-Marie-Tooth (CMT) disrupts the movement of mitochondria, the energy-supplying machines inside each cell. The regulated movement of mitochondria along nerve cell fibers is vital to normal communication between the brain and muscles.

A mutation in the protein mitofusin 2 had been known to cause one type of CMT, a common inherited neurological disorder characterized by a loss of muscle tissue and sensation in the limbs, which affects about 2.6 million people. In this study, a team of researchers lead by Robert Baloh, MD, PhD, of Washington University School of Medicine, examined the role of mitofusin proteins in the cell to learn more precisely how the mutation causes the disease.

"Our study provides the first evidence that mitofusins directly regulate the movement of mitochondria in nerve fibers," Baloh said. "Furthermore, our work suggests the basis for this particular form of CMT is the abnormal movement of mitochondria in these fibers."

Mitochondria are dynamic cellular power providers that travel to places in the cell where energy is needed. All this activity hinges on a series of molecular signals that regulate where mitochondria go.

Baloh and his colleagues used images of live cells taken from mice to study the movement of mitochondria, which moved slower in cells with mutated mitofusin 2, suggesting that the protein directly affects their transport. Until now, researchers had been unsure as to whether the abnormality lay in their transport along, or attachment to, nerve fibers.

"This discovery places this type of CMT in the ever-growing list of neurodegenerative diseases caused by transport problems and strengthens the possibility of using general enhancers of this process as therapy for different types of diseases," said Vincent Timmerman, PhD, of the University of Antwerp in Belgium, who was unaffiliated with the study.

The authors also suggest that a related protein called mitofusin 1 might someday serve to compensate for a mutated and malfunctioning mitofusin 2. Although mitofusins 1 and 2 are different proteins, they play similar roles in a cell. Baloh and his team suggest that mitofusin 1 may be able to perform the function of mitofusin 2 and regulate the transport of mitochondria. Finding a way to increase the levels of mitofusin 1 might have therapeutic effects for patients who have mutated mitofusin 2.

The research was supported by the National Institute of Neurological Disorders and Stroke, the Neuroscience Blueprint Core Grant to Washington University, the Hope Center for Neurological Disorders, the Ministry of Health, Labour, and Welfare of Japan, the Muscular Dystrophy Association, and the Children's Discovery Institute.


Story Source:

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


Cite This Page:

Society for Neuroscience. "Disease-causing mutation disrupts movement of cell's 'power house'." ScienceDaily. ScienceDaily, 30 March 2010. <www.sciencedaily.com/releases/2010/03/100323171634.htm>.
Society for Neuroscience. (2010, March 30). Disease-causing mutation disrupts movement of cell's 'power house'. ScienceDaily. Retrieved August 22, 2014 from www.sciencedaily.com/releases/2010/03/100323171634.htm
Society for Neuroscience. "Disease-causing mutation disrupts movement of cell's 'power house'." ScienceDaily. www.sciencedaily.com/releases/2010/03/100323171634.htm (accessed August 22, 2014).

Share This




More Health & Medicine News

Friday, August 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Drug Used To Treat 'Ebola's Cousin' Shows Promise

Drug Used To Treat 'Ebola's Cousin' Shows Promise

Newsy (Aug. 21, 2014) An experimental drug used to treat Marburg virus in rhesus monkeys could give new insight into a similar treatment for Ebola. Video provided by Newsy
Powered by NewsLook.com
Two US Ebola Patients Leave Hospital Free of the Disease

Two US Ebola Patients Leave Hospital Free of the Disease

AFP (Aug. 21, 2014) Two American missionaries who were sickened with Ebola while working in Liberia and were treated with an experimental drug are doing better and have left the hospital, doctors say on August 21, 2014. Duration: 01:05 Video provided by AFP
Powered by NewsLook.com
Cadavers, a Teen, and a Medical School Dream

Cadavers, a Teen, and a Medical School Dream

AP (Aug. 21, 2014) Contains graphic content. He's only 17. But Johntrell Bowles has wanted to be a doctor from a young age, despite the odds against him. He was recently the youngest participant in a cadaver program at the Indiana University NW medical school. (Aug. 21) Video provided by AP
Powered by NewsLook.com
American Ebola Patients Released: What Cured Them?

American Ebola Patients Released: What Cured Them?

Newsy (Aug. 21, 2014) It's unclear whether the American Ebola patients' recoveries can be attributed to an experimental drug or early detection and good medical care. 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:
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