Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.jtbi.2011.09.014
Title: Quantification of gastrointestinal sodium channelopathy
Authors: Poh, Y.C.
Beyder, A.
Strege, P.R.
Farrugia, G.
Buist, M.L. 
Keywords: Computer model
Ion channel
Markov
Motility disorder
SCN5A
Issue Date: 21-Jan-2012
Citation: Poh, Y.C., Beyder, A., Strege, P.R., Farrugia, G., Buist, M.L. (2012-01-21). Quantification of gastrointestinal sodium channelopathy. Journal of Theoretical Biology 293 : 41-48. ScholarBank@NUS Repository. https://doi.org/10.1016/j.jtbi.2011.09.014
Abstract: Na v1.5 sodium channels, encoded by SCN5A, have been identified in human gastrointestinal interstitial cells of Cajal (ICC) and smooth muscle cells (SMC). A recent study found a novel, rare missense R76C mutation of the sodium channel interacting protein telethonin in a patient with primary intestinal pseudo-obstruction. The presence of a mutation in a patient with a motility disorder, however, does not automatically imply a cause-effect relationship between the two. Patch clamp experiments on HEK-293 cells previously established that the R76C mutation altered Na v1.5 channel function. Here the process through which these data were quantified to create stationary Markov state models of wild-type and R76C channel function is described. The resulting channel descriptions were included in whole cell ICC and SMC computational models and simulations were performed to assess the cellular effects of the R76C mutation. The simulated ICC slow wave was decreased in duration and the resting membrane potential in the SMC was depolarized. Thus, the R76C mutation was sufficient to alter ICC and SMC cell electrophysiology. However, the cause-effect relationship between R76C and intestinal pseudo-obstruction remains an open question. © 2011 Elsevier Ltd.
Source Title: Journal of Theoretical Biology
URI: http://scholarbank.nus.edu.sg/handle/10635/88076
ISSN: 00225193
DOI: 10.1016/j.jtbi.2011.09.014
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