Oculocutaneous albinism is the lack of color in an individual's skin, hair, and eyes. This is a condition that exists from birth. The Importance of Ion Channels: An Analysis of Long QT SyndromeHereditary MethodLong QT Syndrome (LQTS) is a rare congenital heart condition in which patients with this syndrome are at high risk of cardiac arrest and sudden cardiac death due of mutations in the cardiac ion channel system (Crotti et al., 2008). There are two particular variants of long QT syndrome; one is called Jervell and Lange-Nielsen (J-LN) syndrome, which is associated with deafness, and the other was called Romano-Ward (RW) syndrome, in which there is no connection with deafness (Crotti et al., 2008). Romano-Ward syndrome is known to be the most common form of LQTS and is autosomal dominant (Russell et al., 1996), while Jervell and Lange-Nielsen syndrome is less common and is autosomal recessive (Crotti et al. , 2008). ).Genes responsible for or implicated in the disorderThe research community has divided long QT syndrome into types, depending on different mutations in four cardiac ion channel genes, KVLQT1, HERG, SCN5A, and KCNE1 (Zareba et al., 1998). Mutations within these voltage-gated ion channels ultimately disrupt normal nerve impulses that take place within myocardial cells. Sodium and potassium channels play a key role during action potentials as it is through these channels that the respective ions are able to enter and exit the cell to generate electrical excitation or inhibition. Such channels are composed of subunits of proteins, and damage within even a single subunit can alter the overall function of the action potential, which will alter... middle of the paper... ed. Philadelphia, PA: Saunders Elsevier; 2007: 52.Priori, S., Napolitano, C., Schwartz, P., (1999). Low penetrance in 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 ., M. Keating, M. Lehmann, J. Hall, Andrews, M., C. Napolitano, K. Timothy, L. Zhang, A. Medina, J. MacCluer, (1998) . Influence of genotype on the clinical course of long QT syndrome. The New England Journal of Medicine 339, 960-965.
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