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:4/17/2014)... State University engineer has developed a patented technique ... explosive devices. The same technique could help police ... M. and Kay L. Theede chair in engineering ... and his research team have created a template-based ... car trunks. The distance detection method called ...
(Date:4/17/2014)... Several parasites and pathogens that devastate honeybees in Europe, ... Africa, but do not appear to be impacting native ... team of researchers., The invasive pests include including ... East African honeybees appear to be resilient to these ... used to control pests in Europe, Asia and the ...
(Date:4/17/2014)... Cell Press journal Current Biology on April ... sex lives. The Brazilian insects, which represent four distinct ... are the first example of an animal with sex-reversed ... in several different animals, Neotrogla is the ... reversed," says Kazunori Yoshizawa from Hokkaido University in Japan. ...
Breaking Biology News(10 mins):Patented research remotely detects nitrogen-rich explosives 2East African honeybees are safe from invasive pests… for now 2East African honeybees are safe from invasive pests… for now 3In sex-reversed cave insects, females have the penises 2
(Date:1/14/2014)... January 14, 2014 Date: Friday, April 11, ... Warrington Country Club, 1360 Almshouse Road, Warrington, Pa. ... organization solely dedicated to finding a cure for hepatitis B ... will host its annual Crystal Ball on Friday, April 11 ...
(Date:1/14/2014)... 14, 2014 EquitiesIQ, a leading informational ... ALQA). Alliqua is an emerging biomedical company acquiring, developing, ... care market. , Free report download: http://equitiesiq.com/reports/alliqua/ ... seasoned management team and Board, which launched the company’s ...
(Date:1/14/2014)... Jan. 14, 2014  RXi Pharmaceuticals Corporation (OTCQX: RXII), ... commercializing innovative therapies addressing major unmet medical needs ... the Notice of Allowance from the United States ... RNAi compounds (sd-rxRNA®), for the treatment of fibrosis. ...
(Date:1/14/2014)... During the 1600’s through the 1800’s doctors contributed ... In this time period, doctors did not know that they ... the death of vulnerable patients. In the same way, medical ... be unwittingly transmitting herpes viruses to their patients. The CBCD ...
Breaking Biology Technology:Hepatitis B Foundation to Host Annual Crystal Ball Gala 2EquitiesIQ Initiates Coverage of Alliqua, Inc. 2EquitiesIQ Initiates Coverage of Alliqua, Inc. 3RXi Pharmaceuticals Receives US Notice of Allowance for a Key Patent Relating to its Self-Delivering Technology with sd-rxRNAs targeting CTGF, including RXI-109, for the Treatment of Fibrotic Disorders 2RXi Pharmaceuticals Receives US Notice of Allowance for a Key Patent Relating to its Self-Delivering Technology with sd-rxRNAs targeting CTGF, including RXI-109, for the Treatment of Fibrotic Disorders 3Study: Fatigued Medical Interns Infect Their Patients with Herpes Viruses; The CBCD Sees a Parallel with “The Doctor’s Plague” 2Study: Fatigued Medical Interns Infect Their Patients with Herpes Viruses; The CBCD Sees a Parallel with “The Doctor’s Plague” 3
Cached News: