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UM School of Medicine finds new pathway critical to heart arrhythmia
Date:10/26/2011

science discoveries taking place at the School of Medicine, discoveries that we hope one day will lead to relief and new treatments for patients and their families," says E. Albert Reece, M.D., Ph.D., M.B.A. vice president for medical affairs for the University of Maryland, and John Z. and Akiko K. Bowers Distinguished Professor and dean of the University of Maryland School of Medicine.

Until recently, scientists have focused on the regulatory mechanisms that control the way that these ion channels open and close and how that action affects muscle contraction and heart rate. Years of research have shown that it is not simply the action of these ion channels that affects heart arrhythmia Scientists have found that the location and number of channels on the cell's surface are just as important to the heart's rhythm. The study in Cell describes a new intracellular trafficking pathway that controls the number and location of these ion channels on the cell surface.

"Previously, we were unsure how the ion channels get out to the surface of the cell," says Dr. Welling. "We found a new mechanism that operates like a molecular zip code, ensuring that the appropriate numbers of ion channels are sent to the correct cellular location, the cell surface. It also functions as a type of proofreading mechanism, making sure that only correctly made ion channels make it to the cell surface."

Dr. Welling and his colleagues examined the molecular pathology of the genetic condition Andersen-Tawil Syndrome, characterized by uncoordinated muscle contractions, paralysis and disruptions in the normal heart rhythm. The syndrome is caused by mutations in the gene known as KCNJ2, which encodes a potassium channel in the heart and skeletal muscle known as Kir2.1.

The scientists examined how mutations in the potassium channel affects its passage through a key intracellular sorting station called the Golgi apparatus. The Golgi apparatus modifies, sorts and pac
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Contact: Karen Robinson
karobinson@som.umaryland.edu
410-706-7590
University of Maryland Medical Center
Source:Eurekalert

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