From the Department of Cell and Molecular Physiology, Loyola University Chicago, Maywood, Illinois 60153 and
Department of Biochemistry, University of Alberta, Edmonton, Alberta T6G 2R3, Canada
J Biol Chem. 2018 Mar 16;293(11):3890-3891. doi: 10.1074/jbc.H118.002088.
Naturally occurring mutations of a calcium ion transporter can cause a skin condition known as Darier's disease. In this issue of JBC, Mikkelsen describe a particularly interesting Darier's mutation that alters calcium transport by disrupting a kinetic braking mechanism that is unique to the SERCA2b calcium pump isoform. The study provides new insight into the intrinsic regulation of this transporter and reveals how disruption of regulation can lead to disease in Darier's patients.
钙离子转运体的自然突变可引起一种称为大疱性先天性鱼鳞病样红皮病的皮肤疾病。在本期 JBC 中，Mikkelsen 等人描述了一种特别有趣的大疱性先天性鱼鳞病样红皮病突变，该突变通过破坏 SERCA2b 钙泵同工型所特有的动力学制动机制来改变钙转运。该研究为该转运体的固有调节提供了新的见解，并揭示了调节的破坏如何导致大疱性先天性鱼鳞病样红皮病患者的疾病。
