The Importance of Ion Channels Essay -- Disease, Disorders

Oculocutaneous albinism is the lack of color in an individual skin hair and eyes. This is a condition that exists from birth. This a The Importance of Ion Channels: An Analysis of the Long QT Syndrome Inheritance method Long QT Syndrome (LQTS) is an uncommon congenital heart condition in which patients affected by this syndrome are at high risks for cardiac arrest and sudden cardiac death due to mutations in cardiac ion channels (Crotti et al., 2008). There are two particular variants to the Long QT Syndrome; one is called the Jervell and Lange-Nielsen Syndrome (J-LN), which is associated with deafness, and the other has been named the Romano-Ward Syndrome (R-W), in which there is no connection with deafness (Crotti et al., 2008). The Romano-Ward Syndrome is known to be the more common type of LQTS and is autosomal dominant (Russell et al., 1996), whereas the Jervell and Lange-Nielsen Syndrome is less common and is autosomal recessive (Crotti et al., 2008). Gene(s) responsible or implicated in the disorder The research community has divided the Long QT Syndrome by types, depending upon the different mutations in four of the cardiac ion- channel genes, KVLQT1, HERG, SCN5A, and KCNE1 (Zareba et al., 1998). Mutations within these voltage-gated ion channels ultimately disrupt the normal nerve impulses that take place within myocardial cells. Sodium and potassium channels play key roles during action potentials as it is through these channels that their respective ions are able to enter and leave the cell in order to generate electrical excitation or inhibition throughout. Such channels are composed of subunits of proteins, and damage within even one subunit can alter the overall function of the action potential, which will alte... ...ed. Philadelphia, Pa: Saunders Elsevier; 2007: 52. Priori, S., Napolitano, C., Schwartz, P., (1999). Low penetrance in the long-qt syndrome. Circulation 99, 529-533. Russell, M., Dick, M., Collins, F., Brody, L,. (1996). KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Human Molecular Genetics 5, 1319-1324. Westenskow, P., Splawski, I., Timothy, K., Keating, M., Sanguinetti, M., (2004). Compound mutations: a common cause of severe long-QT syndrome. Circulation 109, 1834-1841. Zareba, W., Moss, A., Schwartz, P., Vincent, M., Robinson, J., Priori, S., Benhorin, J., Locati, E., Towbin, J., Keating, M., Lehmann, M., Hall, J., Andrews, M., Napolitano, C., Timothy, K., Zhang, L., Medina, A., MacCluer, J., (1998). Influence of the genotype on the clinical course of the long-QT syndrome. The New England Journal of Medicine 339, 960-965.