Loss-of-function mutations in sodium channel Nav1.7 cause anosmia

Jan Weiss, Martina Pyrski, Eric Jacobi, Bernd Bufe, Vivienne Willnecker, Bernhard Schick, Philippe Zizzari, Samuel J. Gossage, Charles A. Greer, Trese Leinders-Zufall, C. Geoffrey Woods, John N. Wood and Frank Zufall ()
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Jan Weiss: University of Saarland School of Medicine, 66421 Homburg, Germany
Martina Pyrski: University of Saarland School of Medicine, 66421 Homburg, Germany
Eric Jacobi: University of Saarland School of Medicine, 66421 Homburg, Germany
Bernd Bufe: University of Saarland School of Medicine, 66421 Homburg, Germany
Vivienne Willnecker: University of Saarland School of Medicine, 66421 Homburg, Germany
Bernhard Schick: University of Saarland School of Medicine, 66421 Homburg, Germany
Philippe Zizzari: Centre de Psychiatrie & Neurosciences, UMR 894 Inserm, Faculté de Médecine, Université Paris Descartes, 75014 Paris, France
Samuel J. Gossage: Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK
Charles A. Greer: Yale University School of Medicine
Trese Leinders-Zufall: University of Saarland School of Medicine, 66421 Homburg, Germany
C. Geoffrey Woods: Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke’s Hospital, Cambridge CB2 0XY, UK
John N. Wood: Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK
Frank Zufall: University of Saarland School of Medicine, 66421 Homburg, Germany

Nature, 2011, vol. 472, issue 7342, 186-190

Abstract: Abstract Loss of function of the gene SCN9A, encoding the voltage-gated sodium channel Nav1.7, causes a congenital inability to experience pain in humans. Here we show that Nav1.7 is not only necessary for pain sensation but is also an essential requirement for odour perception in both mice and humans. We examined human patients with loss-of-function mutations in SCN9A and show that they are unable to sense odours. To establish the essential role of Nav1.7 in odour perception, we generated conditional null mice in which Nav1.7 was removed from all olfactory sensory neurons. In the absence of Nav1.7, these neurons still produce odour-evoked action potentials but fail to initiate synaptic signalling from their axon terminals at the first synapse in the olfactory system. The mutant mice no longer display vital, odour-guided behaviours such as innate odour recognition and avoidance, short-term odour learning, and maternal pup retrieval. Our study creates a mouse model of congenital general anosmia and provides new strategies to explore the genetic basis of the human sense of smell.

Date: 2011
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DOI: 10.1038/nature09975

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