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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
An SCN9A channelopathy causes congenital inability to experience pain
Nature, Volume 444, No. 7121, Year 2006
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Description
The complete inability to sense pain in an otherwise healthy individual is a very rare phenotype. In three consanguineous families from northern Pakistan, we mapped the condition as an autosomal-recessive trait to chromosome 2q24.3. This region contains the gene SCN9A, encoding the α-subunit of the voltage-gated sodium channel, Nav1.7, which is strongly expressed in nociceptive neurons. Sequence analysis of SCN9A in affected individuals revealed three distinct homozygous nonsense mutations (S459X, I767X and W897X). We show that these mutations cause loss of function of Nav1.7 by co-expression of wild-type or mutant human Nav1.7 with sodium channel β1 and β2 subunits in HEK293 cells. In cells expressing mutant Nav1.7, the currents were no greater than background. Our data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans. These findings should stimulate the search for novel analgesics that selectively target this sodium channel subunit. ©2006 Nature Publishing Group.
Authors & Co-Authors
Cox, James J.
United Kingdom, Cambridge
Addenbrooke's Hospital
Reimann, Frank
United Kingdom, Cambridge
Addenbrooke's Hospital
Nicholas, Adeline K.
United Kingdom, Cambridge
Addenbrooke's Hospital
Thornton, Gemma K.
United Kingdom, Cambridge
Addenbrooke's Hospital
Roberts, Emma
United Kingdom, Leeds
University of Leeds, School of Medicine
Springell, Kelly
United Kingdom, Leeds
University of Leeds, School of Medicine
Karbani, Gulshan A.
United Kingdom, Leeds
St James's University Hospital
Jafri, Hussain S.
Pakistan, Lahore
Gene Tech Lab 146/1
Mannan, Jovaria
Pakistan, Lahore
Fatima Jinnah Medical University
Raashid, Yasmin
Pakistan, Lahore
King Edward Medical University Lahore
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
United Arab Emirates University
Hamamy, Hanan Ali
Jordan, Amman
National Center for Diabetes, Endocrinology and Genetics Jordan
Valente, Enza Maria
Italy, Rome
Irccs Fondazione G.b. Bietti Per lo Studio e la Ricerca in Oftalmologia - Onlus
Gorman, Shaun R.
United Kingdom, Bradford
St Luke’s Hospital
Williams, Richard K.
United Kingdom, Tadworth
Pfizer Limited, uk
McHale, Duncan P.
United Kingdom, Tadworth
Pfizer Limited, uk
Wood, John N.
United Kingdom, London
University College London
Gribble, Fiona Mary
United Kingdom, Cambridge
Addenbrooke's Hospital
Woods, Christopher Geoffrey
United Kingdom, Cambridge
Addenbrooke's Hospital
Statistics
Citations: 1,451
Authors: 19
Affiliations: 12
Identifiers
Doi:
10.1038/nature05413
ISSN:
00280836
e-ISSN:
14764687
Research Areas
Genetics And Genomics