Division of Cardiovascular Diseases, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Sci Transl Med. 2010 Jul 28;2(42):42ps37. doi: 10.1126/scitranslmed.3001433.
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.
在疾病中对受损的生物途径进行反卷积，以及将患者特定的分子机制转化为定制的管理算法，这些都已经开始将个体化医学从原则扩展到实践。一个很好的例子是，人们开始阐明由三磷酸腺苷（ATP）敏感性钾（K(ATP)）通道功能障碍引起的危及生命的人类疾病的病理生物学。在最近发表在《科学》杂志上的一篇论文中，研究人员使用人源化小鼠模型来重现致病的 K(ATP)通道突变，并确定了将遗传变异对疾病特征的影响进行分层的组织特异性损伤。K(ATP)通道病的分子医学进展为个性化诊断和治疗提供了新的视角。
