Featured Research

from universities, journals, and other organizations

Common mechanism underlies many diseases of excitability

Date:
December 30, 2009
Source:
Journal of Clinical Investigation
Summary:
Inherited mutations in voltage-gated sodium channels are associated with many different human diseases, including genetic forms of epilepsy and chronic pain. New research has now determined the functional consequence of three such mutations. These results suggest that there might be a common mechanism underlying diseases caused by mutations in voltage-gated sodium channels.

Inherited mutations in voltage-gated sodium channels (Navs) are associated with many different human diseases, including genetic forms of epilepsy and chronic pain. Theodore Cummins and colleagues, at Indiana University School of Medicine, Indianapolis, have now determined the functional consequence of three such mutations.

Related Articles


The research appears in the Journal of Clinical Investigation.

As noted by Stephen Cannon and Bruce Bean, in an accompanying commentary, these results suggest that there might be a common mechanism for many channelopathies, diseases arising from mutations in ion channel genes such as those analyzed by Cummins and colleagues.

The authors studied the functional consequences of mutations in the human peripheral neuronal sodium channel Nav1.7, the human skeletal muscle sodium channel Nav1.4, and the human heart sodium channel Nav1.5, which are associated with an extreme pain disorder, a muscle condition characterized by slow relaxation of the muscles, and a heart condition and sudden infant death syndrome, respectively. Expression of these mutated proteins in a rat-derived dorsal root ganglion neuronal system led to the conclusion that the mutations all altered opening of the sodium channels such that the channels quickly reopened after an electrical impulse had been fired by the nerve cell causing a resurgent sodium current that triggered a second electrical impulse to be fired rapidly after the first.

These observations are consistent with the diseases all being characterized by excitability, over activity of cells that rely on electrical currents, such as nerve cells, skeletal muscle cells, and heart muscle cells.


Story Source:

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


Journal References:

  1. Brian W. Jarecki, Andrew D. Piekarz, James O. Jackson, II and Theodore R. Cummins. Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents. Journal of Clinical Investigation, Published December 28, 2009 DOI: 10.1172/JCI40801
  2. Stephen C. Cannon and Bruce P. Bean. Sodium channels gone wild: resurgent current from neuronal and muscle channelopathies. Journal of Clinical Investigation, 2010; 120 (1): 80-83 DOI: 10.1172/JCI41340

Cite This Page:

Journal of Clinical Investigation. "Common mechanism underlies many diseases of excitability." ScienceDaily. ScienceDaily, 30 December 2009. <www.sciencedaily.com/releases/2009/12/091228171457.htm>.
Journal of Clinical Investigation. (2009, December 30). Common mechanism underlies many diseases of excitability. ScienceDaily. Retrieved October 31, 2014 from www.sciencedaily.com/releases/2009/12/091228171457.htm
Journal of Clinical Investigation. "Common mechanism underlies many diseases of excitability." ScienceDaily. www.sciencedaily.com/releases/2009/12/091228171457.htm (accessed October 31, 2014).

Share This



More Health & Medicine News

Friday, October 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Melafind: Spotting Melanoma Without a Biopsy

Melafind: Spotting Melanoma Without a Biopsy

Ivanhoe (Oct. 31, 2014) The MelaFind device is a pain-free way to check suspicious moles for melanoma, without the need for a biopsy. Video provided by Ivanhoe
Powered by NewsLook.com
Battling Multiple Myeloma

Battling Multiple Myeloma

Ivanhoe (Oct. 31, 2014) The answer isn’t always found in new drugs – repurposing an ‘old’ drug that could mean better multiple myeloma treatment, and hope. Video provided by Ivanhoe
Powered by NewsLook.com
Chronic Inflammation and Prostate Cancer

Chronic Inflammation and Prostate Cancer

Ivanhoe (Oct. 31, 2014) New information that is linking chronic inflammation in the prostate and prostate cancer, which may help doctors and patients prevent cancer in the future. Video provided by Ivanhoe
Powered by NewsLook.com
Sickle Cell: Stopping Kids’ Silent Strokes

Sickle Cell: Stopping Kids’ Silent Strokes

Ivanhoe (Oct. 31, 2014) Blood transfusions are proving crucial to young sickle cell patients by helping prevent strokes, even when there is no outward sign of brain injury. Video provided by Ivanhoe
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