Nav1.7 Research Paper
SCN9A/ Nav1.7
Pain is an essential sensation needed for survival but on the other hand chronic pain can be a detrimental medical condition. Sensation of pain typically originates from nociceptors located at peripheral neurons (Cummins et al., 2007). Changes brought about in peripheral and central neurons due to altered activity of several ion channels have been linked to the degree of pain sensation. One of the most compelling evidence in the study of pain comes from people who have complete loss of sensation to pain (Cox et al., 2006). Complete loss of function of a voltage gated sodium channel, Nav1.7 is believed to be the cause of this condition. This essay will detail the genetic description of SCN9A/ Nav1.7, normal function of the voltage …show more content…
and Waxman, S.G. 2007. From genes to pain: Nav1.7 and human pain disorders. TRENDS in neurosciences. 30 (11), pp.555-563
Drenth, J.P., et al. 1996. Cutaneous pathology in primary erythermalgia. American Journal of Dermatopathol. 18. pp30–34.
Drenth, J.P. and Waxman, S.G. 2007. Mutations in sodium channel gene SCN9A causes a spectrum of human genetic pain disorders. Journal of clinical investigation. 117 (12). pp.3603-3609
Dugan, R.E.1972. Familial rectal pain. Lancet. 1. P854
Fertleman, C.R., Baker, M.D., Parker K.A., Moffatt, S., Elmslie, F.V., Abrahamsen, B. 2006. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron. 52. pp767–74.
Fischer, T.Z. and Waxman, S.G. 2009. Familial pain syndromes from mutations of the Nav1.7 sodium channel. Annals of The New York Academy of Science. 1184. pp.196-207
Goldberg, Y.P., MacFarlane, J., MacDonald, M.L., Thompson, J., Dube, M-P., Mattice, M., Fraser, R., Young, C., Hossain, S., Pape, T., Payne, B., Radomski, C., Donaldson, G., Ives, E. and Cox, J. 2007. Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Journal of clinical genetics. 71. …show more content…
2006. Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons. Journal of Neurosciences. 26. pp12566–12575.
Lampert, A., Dib-Hajj, S.D., Tyrrell, L. and Waxman, S.G. 2006. Size Matters: Erythromelalgia Mutation S241T in Nav1.7 Alters Channel Gating. Journal of biological chemistry. 281 (47). pp.36029-36035
Michiels, J.J., Rene H.M., te Morsche, Jan B. M. J. Jansen, Joost P. H. Drenth. 2005. Autosomal Dominant Erythermalgia Associated With a Novel Mutation in the Voltage-Gated Sodium Channel α Subunit Nav1.7. Archives of Neurology. 62, pp1587-1590.
Payandeh, J., Scheuer,T., Zheng, N. and Catterall, W.A. 2011. The crystal structure of a voltage-gated sodium channel. Nature. 475. pp.353-359
Yiangou, Y., Facer, P., Chessell, L.P. and Bountra, C. 2007. Voltage-gated ion channel Nav1.7 innervation in patients with idiopathic rectal hypersensitivity and paroxysmal extreme pain disorder (familial rectal pain). Neuroscience letters. 427. pp.77-82
Yu, F.H. and Catterall, W. 2003. Overview of the voltage-gated sodium channel family. Genome biology. 4 (3). article
Pain is an essential sensation needed for survival but on the other hand chronic pain can be a detrimental medical condition. Sensation of pain typically originates from nociceptors located at peripheral neurons (Cummins et al., 2007). Changes brought about in peripheral and central neurons due to altered activity of several ion channels have been linked to the degree of pain sensation. One of the most compelling evidence in the study of pain comes from people who have complete loss of sensation to pain (Cox et al., 2006). Complete loss of function of a voltage gated sodium channel, Nav1.7 is believed to be the cause of this condition. This essay will detail the genetic description of SCN9A/ Nav1.7, normal function of the voltage …show more content…
and Waxman, S.G. 2007. From genes to pain: Nav1.7 and human pain disorders. TRENDS in neurosciences. 30 (11), pp.555-563
Drenth, J.P., et al. 1996. Cutaneous pathology in primary erythermalgia. American Journal of Dermatopathol. 18. pp30–34.
Drenth, J.P. and Waxman, S.G. 2007. Mutations in sodium channel gene SCN9A causes a spectrum of human genetic pain disorders. Journal of clinical investigation. 117 (12). pp.3603-3609
Dugan, R.E.1972. Familial rectal pain. Lancet. 1. P854
Fertleman, C.R., Baker, M.D., Parker K.A., Moffatt, S., Elmslie, F.V., Abrahamsen, B. 2006. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron. 52. pp767–74.
Fischer, T.Z. and Waxman, S.G. 2009. Familial pain syndromes from mutations of the Nav1.7 sodium channel. Annals of The New York Academy of Science. 1184. pp.196-207
Goldberg, Y.P., MacFarlane, J., MacDonald, M.L., Thompson, J., Dube, M-P., Mattice, M., Fraser, R., Young, C., Hossain, S., Pape, T., Payne, B., Radomski, C., Donaldson, G., Ives, E. and Cox, J. 2007. Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Journal of clinical genetics. 71. …show more content…
2006. Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons. Journal of Neurosciences. 26. pp12566–12575.
Lampert, A., Dib-Hajj, S.D., Tyrrell, L. and Waxman, S.G. 2006. Size Matters: Erythromelalgia Mutation S241T in Nav1.7 Alters Channel Gating. Journal of biological chemistry. 281 (47). pp.36029-36035
Michiels, J.J., Rene H.M., te Morsche, Jan B. M. J. Jansen, Joost P. H. Drenth. 2005. Autosomal Dominant Erythermalgia Associated With a Novel Mutation in the Voltage-Gated Sodium Channel α Subunit Nav1.7. Archives of Neurology. 62, pp1587-1590.
Payandeh, J., Scheuer,T., Zheng, N. and Catterall, W.A. 2011. The crystal structure of a voltage-gated sodium channel. Nature. 475. pp.353-359
Yiangou, Y., Facer, P., Chessell, L.P. and Bountra, C. 2007. Voltage-gated ion channel Nav1.7 innervation in patients with idiopathic rectal hypersensitivity and paroxysmal extreme pain disorder (familial rectal pain). Neuroscience letters. 427. pp.77-82
Yu, F.H. and Catterall, W. 2003. Overview of the voltage-gated sodium channel family. Genome biology. 4 (3). article