Mutations in KCNQ1 Ion Channel May Cause Jervell and Lange-Nielsen Synd

Mutations in KCNQ1 Ion Channel May Cause Jervell and Lange-Nielsen Syndrome Abstract Jervell and Lange-Nielsen Syndrome is a human disorder that causes deafness and an irregular heartbeat. It is caused by a mutation in a protein that is a potassium ion channel. The mutations lead to a protein that does not serve the purpose it was designed to serve. It is difficult to treat, but there are things that can be done for both the cardiac and auditory aspects of it. Implantation of a device used as a sort of bionic ear can be used as treatment for the deafness characteristic of JLNS. The cardiac portion of JLNS can be treated by either a preventative step or with an implantable device used to stop arrhythmias (irregular beating of the heart) once they have started. Jervell and Lange-Nielsen syndrome is a recessive genetic disorder caused most commonly by mutations in the gene that codes for the KCNQ1 protein. In JLNS, these mutations cause a premature termination of the protein synthesis, leading to a loss of function. It is also known that KCNQ1 can mutate to cause a gain of function (e.g. a quickened heartbeat). Another disorder known as Romano-Ward syndrome involves changing a few of the amino acids within the protein so that the protein retains its basic shape and function, but is a lot less efficient. Without mutations, the KCNQ1 protein is a potassium ion channel, meaning that it transfers potassium ions between a cell and its surroundings. When mutated, KCNQ1 can cause deafness, and long QT syndrome (a disorder in which the heart takes longer to recharge than normal (QT segment is longer than average), often leading to fainting or sudden death.) Jervell and Lange-Nielsen Syndrome affects an estimated 1.6-... ...m.nih.gov/pubmed/18595190?ordinalpos=7&itool=Entrez System2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum [3]Smith, Jarrod A., and Vanoye, Carlos G. and George Jr., Alfred L. and Meiler, Jens and Sanders, Charles R.. "Structural Models for the KCNQ1 Voltage- Gated Potassium Channel." Biochemistry 4614 11 2007 14141-14152. 27 Jul 2008 sample.cgi/bichaw/2007/46/i49/html/bi701597s.html#bi701597sAF2>. [4]"Cochlear Implant." Wikipedia. 27 Jul 2008 . [5]"Long QT Syndrome." Wikipedia. 27 Jul 2008 . [6]"Jervell and Lange-Nielsen Syndrome." Wikipedia. 27 Jul 2008 . [7]"Jervell and Lange-Nielsen Syndrome." WSLH. 27 Jul 2008 .