Channelopathies: Decoding disease pathogenesis

Research output: Contribution to journalReview article

10 Scopus citations

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.

Original languageEnglish (US)
Article number42ps37
JournalScience translational medicine
Volume2
Issue number42
DOIs
StatePublished - Jul 28 2010

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ASJC Scopus subject areas

  • Medicine(all)

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