Featured Research

from universities, journals, and other organizations

Understanding And Diagnosing An Inherited Pain Syndrome

Date:
July 16, 2005
Source:
Yale University
Summary:
Yale School of Medicine researchers report the first demonstration that a single mutation in a human sodium channel gene can trigger pain in people with an inherited pain syndrome known as primary erythromelalgia, according to a study published this month in the journal Brain.

New Haven, Conn.--Yale School of Medicine researchers report the first demonstration that a single mutation in a human sodium channel gene can trigger pain in people with an inherited pain syndrome known as primary erythromelalgia, according to a study published this month in the journal Brain.

The research provides novel insights into the molecular basis for altered firing of pain signaling neurons in primary erythromelalgia, according to Stephen Waxman, M.D., senior author of the study, chair of the Department of Neurology and director of the West Haven Veterans Administration Rehabilitation Research Center.

DNA samples were studied from a family with 36 members, of which 17 exhibit symptoms typical of erythromelalgia--attacks of intense burning pain of the hands and feet triggered most commonly by heat and moderate exercise. There is currently no effective treatment for erythromelalgia.

All 17 affected members of this family carried a mutation in the gene for sodium channel Nav1.7, one of the nine sodium channels. Nav1.7 is abundantly and preferentially present in small-diameter nerve fibers and free nerve endings within the peripheral nervous system and is associated with pain transmission.

Previous studies linked primary erythromelalgia to two mutations in the gene coding for sodium channel Nav1.7. This study describes a third mutation in Nav1.7 and is evidence that mutant Nav1.7 predisposes its pain sensing neurons to become hyperexcitable and fire rapid bursts of signals at lower than normal stimulation. Hyperexcitability has long been considered a hallmark of painful neuropathies.

Identification of mutations in a specific sodium channel in people with primary erythromelalgia suggests the possibility of rational therapies that target the affected channel. Also, because other pain syndromes, including acquired disorders, involve altered sodium channel function, erythromelalgia may emerge as a model disease that holds more general lessons about the molecular neurobiology of chronic pain.

###

Co-authors of the study include Sulayman Dib-Hajj, Anthony Rush, Theodore Cummins, Fuki Hisama, Stephen Novella, Lynda Tyrrell and Laura Marshall. Funding for the research was provided in part by the Erythromelalgia Association.

Brain Advance Access (June 15, 2005)


Story Source:

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


Cite This Page:

Yale University. "Understanding And Diagnosing An Inherited Pain Syndrome." ScienceDaily. ScienceDaily, 16 July 2005. <www.sciencedaily.com/releases/2005/07/050714003525.htm>.
Yale University. (2005, July 16). Understanding And Diagnosing An Inherited Pain Syndrome. ScienceDaily. Retrieved April 24, 2014 from www.sciencedaily.com/releases/2005/07/050714003525.htm
Yale University. "Understanding And Diagnosing An Inherited Pain Syndrome." ScienceDaily. www.sciencedaily.com/releases/2005/07/050714003525.htm (accessed April 24, 2014).

Share This



More Health & Medicine News

Thursday, April 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Big Pharma Braces for M&A Wave

Big Pharma Braces for M&A Wave

Reuters - Business Video Online (Apr. 22, 2014) Big pharma on the move as Novartis boss, Joe Jimenez, tells Reuters about plans to transform his company via an asset exchange with GSK, and Astra Zeneca shares surge on speculation that Pfizer is looking for a takeover. Joanna Partridge reports. Video provided by Reuters
Powered by NewsLook.com
Study Says Most Crime Not Linked To Mental Illness

Study Says Most Crime Not Linked To Mental Illness

Newsy (Apr. 22, 2014) A new study finds most crimes committed by people with mental illness are not caused by symptoms of their illness or disorder. Video provided by Newsy
Powered by NewsLook.com
Hagel Gets Preview of New High-Tech Projects

Hagel Gets Preview of New High-Tech Projects

AP (Apr. 22, 2014) Defense Secretary Chuck Hagel is given hands-on demonstrations Tuesday of some of the newest research from DARPA _ the military's Defense Advanced Research Projects Agency program. (April 22) Video provided by AP
Powered by NewsLook.com
How Smaller Plates And Cutlery Could Make You Feel Fuller

How Smaller Plates And Cutlery Could Make You Feel Fuller

Newsy (Apr. 22, 2014) NBC's "Today" conducted an experiment to see if changing the size of plates and utensils affects the amount individuals eat. 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