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From Genetics to Cellular Function Using Computational Biology
Author(s) -
RUDY YORAM
Publication year - 2004
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1302.022
Subject(s) - computational biology , function (biology) , biology , evolutionary biology , genetics
A bstract : This article illustrates how computational biology (computer modeling) can be used to link genetic mutations to their cellular phenotypes. Examples are provided from ion channel defects that are associated with hereditary cardiac arrhythmias—that is, the long QT and Brugada syndromes. State‐specific Markov models of wild‐type and mutant channels are formulated and introduced into a computer model of the ventricular cardiac cell. Simulations are conducted to study the rate‐dependent alterations in action potential properties caused by the mutations. Results provide insights into the cellular mechanisms of QT‐interval prolongation on the ECG in the long QT syndrome and of ST‐segment elevation in the right precordial leads in the Brugada syndrome.