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 methodLong QT Syndrome (LQTS) is an un super C congenital heart condition in which patients affected by this syndrome are at high risks for cardiac tour of duty and sudden cardiac death due to mutations in cardiac ion impart (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 separate 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) responsibl e or implicated in the rowdinessThe 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 collapse the normal nerve impulses that take place within myocardial stalls. sodium and potassium channels play key roles during activeness potentials as it is through with(predicate) these channels that their respective ions are able to enter and leave the cell in order to generate electrical excitation or proscription throughout. Such channels are composed of subunits of proteins, and damage within all the same 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., Co llins, 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). intensify 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.