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.[1]References
- Channelopathies: decoding disease pathogenesis. Terzic, A., Perez-Terzic, C. Sci. Transl. Med (2010) [Pubmed]
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