HOME >> BIOLOGY >> NEWS
Origin of inherited pain disorder pinpointed

The genetic basis for a rare inherited disorder that causes severe burning pain with no warning has been pinpointed by researchers. They found that paroxysmal extreme pain disorder (PEPD) is caused by specific mutations in porelike sodium channels in peripheral nerve cellsa discovery that they said emphasizes the role of such channel disorders in inflammatory pain. Such findings of abnormal function in disease also provide insights into the normal function of such channels, they said.

R. Mark Gardiner, of University College London, and his colleagues published their findings in the December 7, 2006, issue of the journal Neuron, published by Cell Press.

So-called "voltage-gated sodium channels" are central to the neuron's ability to propagate a nerve impulse. In response to voltage changes in a nerve cell caused by a nerve impulse, these channels snap open, allowing sodium to flow across the cell membrane, further propagating the nerve impulse. Rapid, precise activation and inactivation is key to their normal operation.

In their studies, the researchers sought to understand the basis of PEPD, which is characterized by abrupt paroxysms of pain in the rectum, eye, and jaw. They first performed a detailed genetic comparison of affected and unaffected members of one large family that showed inheritance of the disease. That analysis revealed that mutations that compromise the gene for a component of one particular sodium channel, called SCN9A, were the likely culprit. Further analysis of the gene in 11 affected families and two sporadic cases, indeed, revealed that mutations in SCN9A are responsible for the disease in at least two-thirds of PEPD cases.

Analysis of these mutations revealed that they all disrupted the ability of the sodium channel to rapidly snap shut, prolonging activation of the peripheral nerves in which the channels functioned. What's more, the researchers found, the drug carbamazepineknown to be effective in PEPDa
'"/>

Contact: Heidi Hardman
hhardman@cell.com
617-397-2879
Cell Press
6-Dec-2006


Page: 1 2

Related biology news :

1. Origins of nervous system found in genes of sea sponge, report scientists at UC Santa Barbara
2. Origins of nervous system found in genes of sea sponge
3. Origins of life
4. Origins, spread of honeybees determined
5. The Origin, Evolution, and Future of Life on Earth
6. Study identifies new gene therapy tools for inherited blindness
7. Ability to listen to 2 things at once is largely inherited, says twin study
8. MIT researchers reverse symptoms in mice of leading inherited cause of mental retardation
9. Researchers discover inherited mutation for leukemia
10. Defective movement of cells power plants implicated in commom inherited neurological disorder
11. Changes in dietary protein may override inherited skeletal abnormalities

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/24/2017)... , April 24, 2017 ... and partner with  Identity Strategy Partners, LLP (IdSP) ... "With or without President Trump,s March 6, 2017 ... Terrorist Entry , refugee vetting can be instilled with ... resettlement. (Right now, all refugee applications are suspended ...
(Date:4/18/2017)... Inc., a global expert in SoC-based imaging and computing solutions, has ... features the company,s hybrid codec technology. A demonstration utilizing TeraFaces ® ... be showcased during the upcoming Medtec Japan at Tokyo Big Sight ... Las Vegas Convention Center April 24-27. ... Click here for an image of the ...
(Date:4/13/2017)... , April 13, 2017 UBM,s Advanced ... will feature emerging and evolving technology through ... Innovation Summits will run alongside the expo portion of ... sessions, panels and demonstrations focused on trending topics within ... advanced design and manufacturing event will take place June ...
Breaking Biology News(10 mins):
(Date:10/9/2017)... ... October 09, 2017 , ... At its national board ... Stubbs, a professor in Harvard University’s Departments of Physics and Astronomy, has been selected ... member of the winning team for the 2015 Breakthrough Prize in Fundamental physics for ...
(Date:10/9/2017)... ... October 09, 2017 , ... ... in the medical journal, Epilepsia, Brain Sentinel’s SPEAC® System which uses the ... in detecting generalized tonic-clonic seizures (GTCS) using surface electromyography (sEMG). The prospective ...
(Date:10/7/2017)... ... October 06, 2017 , ... ... technologies, launched its ProxiMeta™ Hi-C metagenome deconvolution product, featuring the first commercially ... cloud-based bioinformatics software to perform Hi-C metagenome deconvolution using their own facilities, ...
(Date:10/6/2017)... ... October 06, 2017 , ... The HealthTech ... technology sector at their fourth annual Conference where founders, investors, innovative practitioners and ... the ELEVATE pitch competition showcasing early stage digital health and med tech companies. ...
Breaking Biology Technology:
Cached News: