Channelopathies: Decoding Disease Pathogenesis — Sci TM

Sci Transl Med 28 July 2010:
Vol. 2, Issue 42, p. 42ps37
DOI: 10.1126/scitranslmed.3001433
Perspective
Channelopathies: Decoding Disease Pathogenesis
Andre Terzic1,* and Carmen Perez-Terzic1,2

+ Author Affiliations

1Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA.
2Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN 55905, USA.
*Corresponding author. E-mail: terzic.andre@mayo.edu

Abstract
The deconvolution of corrupted biological pathways in disease and the translation of patient-specific molecular mechanisms into tailored management algorithms have begun to extend the reach of individualized medicine from principles to practice. A case in point is the emergent deciphering of the pathobiology underlying life-threatening human diseases caused by dysfunction in adenosine triphosphate (ATP)–sensitive potassium (KATP) channels. In a recent paper in Science, researchers used humanized mouse models to recapitulate a pathogenic KATP channel mutation and pinpoint tissue-restricted lesions that stratify the consequences of genetic variation on disease traits. Advances in the molecular medicine of KATP channelopathies offer new perspectives for personalized diagnosis and therapy.

Footnotes
Citation: A. Terzic, C. Perez-Terzic, Channelopathies: Decoding disease pathogenesis. Sci. Transl. Med. 2, 42ps37 (2010).

Copyright © 2010, American Association for the Advancement of Science

open here please:
Channelopathies: Decoding Disease Pathogenesis — Sci TM