HOME >> BIOLOGY >> NEWS
Cambridge led team discovers gene mutation which prevents carriers from feeling pain

Researchers have discovered a gene mutation which prevents the otherwise healthy carriers from sensing pain, after studying three related families with a rare genetic disorder in northern Pakistan.

The research, published today in the journal Nature, provides insight into the mechanics of pain and could lead to the development of more effective pain treatments.

The carriers of the very rare genetic mutation are unable to perceive any form of pain but have otherwise completely normal sensory functions. The initial case study was a ten-year-old street performer in Pakistan with the genetic mutation. His inability to feel pain enabled him to place knives through his arms and walk on burning coals. (The young boy died before his fourteenth birthday from injures sustained after jumping off a roof.)

The scientists subsequently studied six individuals with the genetic mutation from three related families, all originating from northern Pakistan. The six relatives had not experienced pain at any time in their lives. Detailed neurological examinations revealed that there was no evidence of motor or sensory disease, and that they could perceive a number of sensations (including touch, warm and cold temperature, tickle and pressure).

As pain is a survival mechanism which enables organisms to minimise damage to tissues, they had all sustained a variety of injuries, including injuries to their lips and/or tongue from biting themselves when young.

By studying these individuals, the scientists were able to determine that a mutation in the gene SCN9A causes a loss of function in the voltage-gated sodium channel it encodes (subunit Nav1.7). Sodium channels are proteins which excite neurons, and though the precise function of Nav1.7 is unclear, as part of a sodium channel it would play a role in exciting sensory neurons.

Dr Geoffrey Woods, from the Department of Medical Genetics and the University of Camb
'"/>

Contact: Genevieve Maul
Genevieve.maul@admin.cam.ac.uk
44-077-740-17464
University of Cambridge
13-Dec-2006


Page: 1 2

Related biology news :

1. Third annual Templeton-Cambridge Fellowships awarded to 10 noted journalists
2. deCODE discovers cause of major subtype of glaucoma
3. UB scientist discovers novel iron-copper alliance
4. Research team discovers gallstone gene
5. University of Pittsburgh discovers genetic shut down trigger in healthy immune cells
6. Scripps research team discovers a chemical pathway that causes mice to overeat and gain weight
7. Joslin discovers protein that causes blood vessel leakage and swelling with diabetic retinopathy
8. Nevada scientist part of team that discovers hybrid speciation in butterflies in Sierra
9. ROV discovers Antarctic seafloor fauna
10. Contrary to common wisdom, scientist discovers some mammals can smell objects under water
11. Mayo researcher discovers target site for developing mosquito pesticides

Post Your Comments:
(Date:11/6/2014)... deaths occur because of metastasis, yet progress in ... slow. , "It,s been particularly challenging to design ... research fellow in systems biology at Harvard Medical ... until after they,ve already metastasized." , Gujral and ... should help researchers better understand how metastasis begins. ...
(Date:11/6/2014)... 2014 - Insilico Medicine, Inc, a Baltimore-based bioinformatics ... related diseases announced a research collaboration with the ... Oncology, Inc (OTC: CSBR). , "There are many ... but Champions Oncology,s TumorGraft technology is unique in ... regimen experimentally generating vast amounts of valuable data. ...
(Date:11/5/2014)... dedicated his career to understanding the Earth,s climate ... , As deputy director and regional climatologist for ... Research Institute, Redmond has more than three decades ... of climate data to the general public. , ... Francisco on December 15-19, 2014 the American Geophysical ...
Breaking Biology News(10 mins):Migration negation 2Migration negation 3Insilico Medicine, Inc announces research collaboration with Champions Oncology, Inc 2Nevada climatologist to be honored at AGU Fall Meeting for lifetime of public outreach 2
(Date:11/27/2014)... DUBLIN , Nov. 27, 2014 ... of the "Global Palmitic Acid Industry Report 2014" ... http://photos.prnewswire.com/prnh/20130307/600769 The Global Palmitic Acid ... on the current state of the global palmitic acid ... of the industry including definitions, classifications, applications and industry ...
(Date:11/26/2014)... NOVEMBER 21, 2014 (PRWEB) November 26, 2014 ... health-oriented communications network, today announced the organization has won ... Rx Club Awards. Digitas Health LifeBrands was honored with ... four other PHCG agencies received eight Awards of Excellence. ... creative aspects of pharmaceutical advertising and promotion. The Awards ...
(Date:11/26/2014)... YORK , Nov. 26, 2014 The ... may indicate the company is looking to expand in ... further sales.  The healthcare market research firm says that  ... to Kalorama Information,s biennial survey of the IVD market ... and any change in its composition would likely affect ...
(Date:11/26/2014)... PMG Research, Inc. announced today the formation ... of sites that provide clinical research services to pharmaceutical companies ... through its partnerships with large physician practices and integrated health ... in the Southeastern United States and spans over 60 physician ... will be held by: Dr. Robert Holmes, MD, of ...
Breaking Biology Technology:Global Palmitic Acid Industry Report 2014 2Publicis Healthcare Wins 20 Rx Club Awards 2Publicis Healthcare Wins 20 Rx Club Awards 3Kalorama: Sale of Three Siemens Healthcare Units Raises Questions About Firm's IVD Future 2PMG Research Names Medical Advisory Board 2PMG Research Names Medical Advisory Board 3
Cached News: