MRC Metabolic Diseases Unit, Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Treatment Centre, University of Cambridge, Cambridge, U.K.
Diabetes. 2021 Jan;70(1):29-38. doi: 10.2337/dbi19-0037.
The study of humans with genetic mutations which lead to a substantial disturbance of physiological processes has made a contribution to biomedical science that is disproportionate to the rarity of affected individuals. In this lecture, I discuss examples of where such studies have helped to illuminate two areas of human metabolism. First, the control of insulin sensitivity and its disruption in states of insulin resistance and second, the regulation of energy balance and its disturbances in obesity.
对导致生理过程严重紊乱的基因突变的人类研究,为生物医学科学做出了与其罕见受影响个体不成比例的贡献。在本次演讲中,我讨论了此类研究有助于阐明人类代谢两个领域的例子。首先是胰岛素敏感性的控制及其在胰岛素抵抗状态下的破坏,其次是能量平衡的调节及其在肥胖中的紊乱。