A new Nav1.7 mutation in an erythromelalgia patient.
作者： Mark Estacion , Yang Yang , Sulayman D. Dib-Hajj , Lynda Tyrrell , Zhimiao Lin
DOI: 10.1016/J.BBRC.2013.01.079
关键词:
摘要: Gain-of-function missense mutations of SCN9A gene, which encodes voltage-gated sodium channel Nav1.7, alter channel's biophysical properties causing painful disorders are refractory to pharmacotherapy in the vast majority patients. Here we report a novel mutation (ca.T3947C) exon 20 9 year old patient, not present 200 ethnically-matched control alleles; substitutes invariant valine 1316 residue within DIII/S5 by alanine (V1316A). Voltage-clamp studies show that Nav1.7 V1316A hyperpolarizes activation (-9 mV), and enhances response ramp stimuli (3-fold), changes predicted cause hyperexcitability DRG neurons. also steady-state slow-inactivation (-9.9 is attenuate effect this on neuron firing. These consistent with previously characterized Erytheromelalgia associated Nav1.7.
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sci-hub.se 参考文章(46)
N. Klugbauer, L. Lacinova, V. Flockerzi, F. Hofmann, Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells. The EMBO Journal. ,vol. 14, pp. 1084- 1090 ,(1995) , 10.1002/J.1460-2075.1995.TB07091.X
William A Catterall, Franck Kalume, John C Oakley, None, NaV1.1 channels and epilepsy The Journal of Physiology. ,vol. 588, pp. 1849- 1859 ,(2010) , 10.1113/JPHYSIOL.2010.187484
M Estacion, JS Choi, EM Eastman, Z Lin, Y Li, L Tyrrell, Y Yang, SD Dib‐Hajj, SG Waxman, None, Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation. The Journal of Physiology. ,vol. 588, pp. 1915- 1927 ,(2010) , 10.1113/JPHYSIOL.2009.186114
Angelika Lampert, Sulayman D. Dib-Hajj, Lynda Tyrrell, Stephen G. Waxman, Size Matters: Erythromelalgia Mutation S241T in Nav1.7 Alters Channel Gating Journal of Biological Chemistry. ,vol. 281, pp. 36029- 36035 ,(2006) , 10.1074/JBC.M607637200
Tanya Z. Fischer, Elaine S. Gilmore, Mark Estacion, Emmanuella Eastman, Sean Taylor, Michel Melanson, Sulayman D. Dib-Hajj, Stephen G. Waxman, A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. Annals of Neurology. ,vol. 65, pp. 733- 741 ,(2009) , 10.1002/ANA.21678
Jin-Sung Choi, Lili Zhang, Sulayman D. Dib-Hajj, Chongyang Han, Lynda Tyrrell, Zhimiao Lin, Xiaoliang Wang, Yong Yang, Stephen G. Waxman, Mexiletine-responsive erythromelalgia due to a new Nav1.7 mutation showing use-dependent current fall-off Experimental Neurology. ,vol. 216, pp. 383- 389 ,(2009) , 10.1016/J.EXPNEUROL.2008.12.012
T. P. Harty, S. D. Dib-Hajj, L. Tyrrell, R. Blackman, F. M. Hisama, J. B. Rose, S. G. Waxman, Nav1.7 mutant A863P in erythromelalgia : Effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons The Journal of Neuroscience. ,vol. 26, pp. 12566- 12575 ,(2006) , 10.1523/JNEUROSCI.3424-06.2006
J. Natkunarajah, D. Atherton, F. Elmslie, S. Mansour, P. Mortimer, Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel. Clinical and Experimental Dermatology. ,vol. 34, ,(2009) , 10.1111/J.1365-2230.2009.03355.X
Sulayman Dib-Hajj, Joel A Black, Theodore R Cummins, Stephen G Waxman, NaN/Nav1.9: a sodium channel with unique properties Trends in Neurosciences. ,vol. 25, pp. 253- 259 ,(2002) , 10.1016/S0166-2236(02)02150-1
Goryu Fukuma, Hirokazu Oguni, Yukiyoshi Shirasaka, Kazuyoshi Watanabe, Tasuku Miyajima, Sawa Yasumoto, Masaharu Ohfu, Takahito Inoue, Aruchalean Watanachai, Ryutaro Kira, Muneaki Matsuo, Hideki Muranaka, Fumiko Sofue, Bo Zhang, Sunao Kaneko, Akihisa Mitsudome, Shinichi Hirose, Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB) Epilepsia. ,vol. 45, pp. 140- 148 ,(2004) , 10.1111/J.0013-9580.2004.15103.X