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
University of Cambridge

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:11/9/2015)... DUBLIN , Nov. 09, 2015 /PRNewswire/ ... announced the addition of the "Global ... to their offering. --> http://www.researchandmarkets.com/research/52ggmn/global_law ... "Global Law Enforcement Biometrics Market 2015-2019" ... Research and Markets ( http://www.researchandmarkets.com/research/52ggmn/global_law ) ...
(Date:10/29/2015)... Oct. 29, 2015   MedNet Solutions , an ... spectrum of clinical research, is pleased to announce that ... Association (MHTA) as one of only three finalists for ... – Small and Growing" category. The Tekne Awards honor ... shown superior technology innovation and leadership. ...
(Date:10/29/2015)...  Connected health pioneer, Joseph C. Kvedar , ... health and wellness, and the business opportunities that arise ... Internet of Healthy Things . Long before health ... Dr. Kvedar, vice president, Connected Health, Partners HealthCare, was ... care from the hospital or doctor,s office into the ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... 25, 2015 The Global ... a professional and in-depth study on the current ... (Logo: http://photos.prnewswire.com/prnh/20141014/710132 ) , The ... including definitions, classifications, applications and industry chain structure. ... international markets including development trends, competitive landscape analysis, ...
(Date:11/24/2015)... ... November 24, 2015 , ... The United States Golf Association (USGA) ... USGA Green Section Award. Presented annually since 1961, the USGA Green Section Award recognizes ... with turfgrass. , Clarke, of Iselin, N.J., is an extension specialist of ...
(Date:11/24/2015)... Nov. 24, 2015 /CNW/ - iCo Therapeutics ("iCo" or ... financial results for the quarter ended September 30, ... Canadian dollars and presented under International Financial Reporting ... ," said Andrew Rae , President ... iCo-008 are not only value enriching for this ...
(Date:11/24/2015)... , Nov. 24, 2015 /PRNewswire/ - Aeterna Zentaris Inc. ... IIROC on behalf of the Toronto Stock Exchange, confirms ... there are no corporate developments that would cause the ... --> --> About Aeterna Zentaris ... . --> Aeterna Zentaris is a specialty ...
Breaking Biology Technology:
Cached News: