Featured Research

from universities, journals, and other organizations

Researchers Discover Gene Mutations Linked With A Type Of Chronic Pain And Weakness Syndrome

Date:
September 28, 2005
Source:
University of Washington
Summary:
Researchers have discovered gene mutation associated with a type of chronic pain and weakness syndrome. It is the first genetic disease found to be caused by a mutation in a gene of the septin family. Septins form protein filaments to provide scaffolding inside celss, and also play a role in cell division.

In a significant advance toward understanding a perplexing and painful neurological disorder, an international team of researchers has discovered gene mutations associated with an inherited chronic pain and weakness syndrome known as hereditary neuralgic amyotrophy (also called HNA). No treatment is known for this disabling condition, which short-circuits a peripheral nerve center called the brachial plexus, a network of over 100,000 nerves, that branches from the spinal cord to supply muscular function and sensation to the shoulders, arms, and hands.

HNA may first appear in the childhood or teen years, and lead to recurring episodes of severe, sudden onset pain in the arms and shoulders as well as weakness, loss of sensation, and muscle wasting. Episodes are often triggered by an infection, an immunization, childbirth, or overworking the arms and shoulders. Nerve inflammation and changes in the blood suggest that problems with the person's immune response are contributing to the episode. The on again/off again course of the condition, and the environmental triggers, are unusual among inherited nerve disorders.

An associated aspect of the disorder in some individuals is facial features -- a long, slender face and narrow, close-set eyes slanting upward -- reminiscent of portraits by the early 20th-century Italian painter Modigliani, according to Phillip F. Chance, MD, professor of pediatrics and neurology at the University of Washington in Seattle, whose laboratory first located the gene for this disorder to chromosome 17 in 1996.

Twenty-seven medical scientists at universities in Germany, Belgium, the United States, Finland, and Spain conducted the research to find the specific gene responsible for HNA. The lead authors of the study, which appears in the Sept. 25 edition of Nature Genetics, include Dr. Gregor Kuhlenbaumer of the University of Munster, Dr. Vincent Timmerman of the University of Antwerp, and Dr. Mark C. Hannibal and Dr. Phillip Chance, both from the Division of Genetics and Developmental Medicine at the University of Washington.

By studying several multigenerational families who had several relatives with HNA, the researchers identified mutations in a gene named septin-9 ( known as SEPT9). Cells from a variety of life forms, ranging from yeast to fruit flies to humans, contain septins. Septins form protein filaments that provide the internal scaffolding of cells, and play key roles in the process by which cells divide. Out-of-control septins are implicated in certain abnormal cell divisions that lead to tumor formation, including breast cancer. Cells depleted of SEPT9 often fail to complete normal cell division. HNA is the first genetic disease found to be caused by a mutation in a gene of the septin family.

According to the authors of the SEPT9 gene mutations study, SEPT9 has particular structures that distinguish it from all other septins, but the significance and function of these structures is as yet unknown. Future research on the SEPT9 gene and its mutations may lead to a better understanding of the normal function of the gene and its protein products. Scientists also hope to learn how the mutated gene contributes to the development of specific facial features before birth and is later triggered to produce the nerve disorder, and why the disease goes through exacerbations and remissions.

###

The research on the genetic mutations of SEPT9 was supported by grants from the Deutsche Forschungsgemeinschaft, the Neuropathy Association, the National Institutes of Health, the Veterans Affairs Research Fund, the University of Antwerp, the Fund for Scientific Research, the Interuniversity Attraction Poles program of the Belgian Federal Science Policy Office, and the Medical Foundation Queen Elizabeth.


Story Source:

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


Cite This Page:

University of Washington. "Researchers Discover Gene Mutations Linked With A Type Of Chronic Pain And Weakness Syndrome." ScienceDaily. ScienceDaily, 28 September 2005. <www.sciencedaily.com/releases/2005/09/050928085017.htm>.
University of Washington. (2005, September 28). Researchers Discover Gene Mutations Linked With A Type Of Chronic Pain And Weakness Syndrome. ScienceDaily. Retrieved April 19, 2014 from www.sciencedaily.com/releases/2005/09/050928085017.htm
University of Washington. "Researchers Discover Gene Mutations Linked With A Type Of Chronic Pain And Weakness Syndrome." ScienceDaily. www.sciencedaily.com/releases/2005/09/050928085017.htm (accessed April 19, 2014).

Share This



More Health & Medicine News

Saturday, April 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

'Holy Grail' Of Weight Loss? New Find Could Be It

'Holy Grail' Of Weight Loss? New Find Could Be It

Newsy (Apr. 18, 2014) In a potential breakthrough for future obesity treatments, scientists have used MRI scans to pinpoint brown fat in a living adult for the first time. Video provided by Newsy
Powered by NewsLook.com
Little Progress Made In Fighting Food Poisoning, CDC Says

Little Progress Made In Fighting Food Poisoning, CDC Says

Newsy (Apr. 18, 2014) A new report shows rates of two foodborne infections increased in the U.S. in recent years, while salmonella actually dropped 9 percent. Video provided by Newsy
Powered by NewsLook.com
Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com
Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) 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