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

Mutations in KCNQ1 Ion Channel May Cause Jervell and Lange-Nielsen Syndrome addictJervell and Lange-Nielsen Syndrome is a human disorder that perplexs deafness and anirregular heartbeat. It is caused by a mutation in a protein that is a cat valium ion channel.The mutations lead to a protein that does not serve the purpose it was designed to serve. Itis difficult to treat, but in that respect are things that can be done for both the cardiac and auditiveaspects of it. Implantation of a whirl used as a word form of bionic ear can be used as intercessionfor the deafness characteristic of JLNS. The cardiac portion of JLNS can be treated byeither a preventative step or with an implantable device used to stop arrhythmias (irregularbeating of the heart) once they have started.Jervell and Lange-Nielsen syndrome is a recessionary componenttic disorder caused mostcommonly by mutations in the gene that codes for the KCNQ1 protein. In JLNS, thesemutations cause a premature termination of the protein synthesis, leading to a loss offunction. It is also known that KCNQ1 can mutate to cause a gain of function (e.g. aquickened heartbeat). Another disorder known as Romano-Ward syndrome involveschanging a few of the amino acids within the protein so that the protein retains its rudimentaryshape and function, but is a lot less efficient. Without mutations, the KCNQ1 protein is apotassium ion channel, meaning that it transfers potassium ions between a cell and itssurroundings. When mutated, KCNQ1 can cause deafness, and long QT syndrome (adisorder in which the heart takes longer to recharge than rule (QT segment is longerthan average), often leading to fainting or sudden death.) Jervell and Lange-NielsenSyndrome affects an estimated 1.6-... ...m.nih.gov/pubmed/18595190?ordinalpos=7&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum3Smith, Jarrod A., and Vanoye, Carlos G. and George Jr., Alfred L. and Meiler,Jens and Sanders, Charles R.. Structural Mod els for the KCNQ1 Voltage-Gated Potassium Channel. Biochemistry 4614 11 2007 14141-14152. 27 Jul2008 sample.cgi/bichaw/2007/46/i49/html/bi701597s.htmlbi701597sAF2.4cochlear Implant. Wikipedia. 27 Jul 2008.5Long QT Syndrome. Wikipedia. 27 Jul 2008.6Jervell and Lange-Nielsen Syndrome. Wikipedia. 27 Jul 2008.7Jervell and Lange-Nielsen Syndrome. WSLH. 27 Jul 2008.