Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism

Pain
Luyao YangJing Yu Liu

Abstract

Mutations in Nav1.9 encoded by SCN11A have been associated with episodic pain, small-fiber neuropathy, and congenital insensitivity to pain. In this study, we collected and characterized one Chinese family with episodic pain. The SCN11A mutation (c.664C>A/p.Arg222Ser) was identified and cosegregated with the episodic pain phenotype. In addition, we found that alcohol intake triggered intense pain attacks and detected the ALDH2 polymorphism (c.1510G>A/p.Glu504Lys) in 3 patients with episodic pain. The alcohol-aggravated pain symptom and this ALDH2 polymorphism were also reconfirmed in our previously reported episodic pain patient with the Nav1.9 mutation (p.Ala808Gly, patient III-2 in HBBJ family). To assess the pathogenicity of the Nav1.9 mutation and the new trigger, we introduced a mutation (p.Ala796Gly) into the mouse (orthologous mutation in human is p.Ala808Gly). The alteration hyperpolarized channel activation, increased the residual current through noninactivating channels, and induced hyperexcitability of dorsal root ganglion (DRG) neurons in Scn11a mice. The Scn11a mice showed increased sensitivity to mechanical, heat, and cold stimuli, and hypersensitivity to acetaldehyde and formalin, which could account for the alco...Continue Reading

References

Jan 1, 1992·Human Genetics·H W GoeddeR Lisker
May 1, 1986·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·W F Bosron, T K Li
Feb 23, 1980·Lancet·C R StrakoschH Keen
Mar 4, 2003·Nature Reviews. Drug Discovery·Rod J Flower
Jun 29, 2004·The Journal of Pain : Official Journal of the American Pain Society·Harry J GouldDennis Paul
Jun 21, 2005·Proceedings of the National Academy of Sciences of the United States of America·Birgit T PriestWilliam J Martin
Dec 15, 2006·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Fumimasa AmayaClifford J Woolf
Feb 13, 2007·Evaluation & the Health Professions·Linda S KahnJohn S Taylor
Feb 14, 2008·The Journal of General Physiology·François MaingretPatrick Delmas
Jan 30, 2013·The Journal of General Physiology·Carlos G VanoyeAlfred L George
Jan 3, 2014·Physiological Reviews·Che-Hong ChenDaria Mochly-Rosen
Jan 30, 2014·Nature Neuroscience·Daniele Piomelli, Oscar Sasso
Apr 2, 2014·Trends in Pharmacological Sciences·Mireille Alhouayek, Giulio G Muccioli
Apr 30, 2014·Brain : a Journal of Neurology·Jianying HuangUNKNOWN PROPANE Study Group
Sep 25, 2014·Journal of the Peripheral Nervous System : JPNS·Brigitte A BrouwerCatharina G Faber
Jan 9, 2015·Open Biology·Sivakumar NamaduraiAntony P Jackson
May 12, 2015·Cell Reports·Stéphane LolignierJérôme Busserolles
Aug 6, 2015·Nature Reviews. Neuroscience·Sulayman D Dib-HajjStephen G Waxman
Nov 14, 2015·Expert Opinion on Therapeutic Patents·Sara ConsalviGiovanna Poce
Dec 10, 2015·Nature Communications·Enrico LeipoldIngo Kurth
May 6, 2016·Mini Reviews in Medicinal Chemistry·Tingting YuHeng Zheng
Aug 10, 2016·Journal of Neurology, Neurosurgery, and Psychiatry·Chongyang HanSulayman D Dib-Hajj
Dec 6, 2016·Pharmacology & Therapeutics·Irina VetterMehdi Mobli
Jun 2, 2017·Scientific Reports·Masayuki SakiyamaNariyoshi Shinomiya
Dec 17, 2018·Journal of Neurology, Neurosurgery, and Psychiatry·Ivo EijkenboomMonique M Gerrits
Dec 18, 2018·PloS One·Risako KabataAkio Koizumi
Jan 24, 2019·Physiological Reviews·David L BennettSulayman D Dib-Hajj

❮ Previous
Next ❯

Citations

May 4, 2021·British Journal of Anaesthesia·Shiyun JinLi Zhang
Jun 7, 2021·British Journal of Anaesthesia·Vanessa O ZambelliEric R Gross

❮ Previous
Next ❯

Related Concepts

Related Feeds

Allergy and Asthma

Allergy and asthma are inflammatory disorders that are triggered by the activation of an allergen-specific regulatory t cell. These t cells become activated when allergens are recognized by allergen-presenting cells. Here is the latest research on allergy and asthma.

Related Papers

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Federica GinanneschiAlessandro Rossi
Nature Genetics
James J Cox, John N Wood
© 2021 Meta ULC. All rights reserved