Channelopathies: decoding disease pathogenesis.
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 (K(ATP)) channels. In a recent paper in Science, researchers used humanized mouse models to recapitulate a pathogenic K(ATP) channel mutation and pinpoint tissue-restricted lesions that stratify the consequences of genetic variation on disease traits. Advances in the molecular medicine of K(ATP) channelopathies offer new perspectives for personalized diagnosis and therapy.
Terzic
Andre
A
Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA. terzic.andre@mayo.edu
Perez-Terzic
Carmen
C
D000818:Animals; D053447:Channelopathies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D054086:KATP Channels / Q000235:genetics / Q000378:metabolism; D008954:Models, Biological; D009154:Mutation
D054086:KATP Channels