Liu Julia C, Syder Nicole C, Ghorashi Nima S, Willingham Thomas B, Parks Randi J, Sun Junhui, Fergusson Maria M, Liu Jie, Holmström Kira M, Menazza Sara, Springer Danielle A, Liu Chengyu, Glancy Brian, Finkel Toren, Murphy Elizabeth
Cardiovascular Branch and.
Center for Molecular Medicine, National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland, USA.
JCI Insight. 2020 Feb 27;5(4):134063. doi: 10.1172/jci.insight.134063.
The mitochondrial calcium uniporter is widely accepted as the primary route of rapid calcium entry into mitochondria, where increases in matrix calcium contribute to bioenergetics but also mitochondrial permeability and cell death. Hence, regulation of uniporter activity is critical to mitochondrial homeostasis. The uniporter subunit EMRE is known to be an essential regulator of the channel-forming protein MCU in cell culture, but EMRE's impact on organismal physiology is less understood. Here we characterize a mouse model of EMRE deletion and show that EMRE is indeed required for mitochondrial calcium uniporter function in vivo. EMRE-/- mice are born less frequently; however, the mice that are born are viable, healthy, and do not manifest overt metabolic impairment, at rest or with exercise. Finally, to investigate the role of EMRE in disease processes, we examine the effects of EMRE deletion in a muscular dystrophy model associated with mitochondrial calcium overload.
线粒体钙单向转运体被广泛认为是钙离子快速进入线粒体的主要途径,线粒体基质中钙离子的增加有助于生物能量学,但也会影响线粒体通透性和细胞死亡。因此,调节单向转运体活性对于线粒体稳态至关重要。已知单向转运体亚基EMRE是细胞培养中通道形成蛋白MCU的重要调节因子,但EMRE对机体生理学的影响尚不清楚。在这里,我们对EMRE基因敲除小鼠模型进行了表征,结果表明EMRE在体内确实是线粒体钙单向转运体功能所必需的。EMRE基因敲除小鼠出生频率较低;然而,出生的小鼠是存活的、健康的,在休息或运动时均未表现出明显的代谢损伤。最后,为了研究EMRE在疾病过程中的作用,我们检测了EMRE基因敲除对与线粒体钙超载相关的肌肉萎缩症模型的影响。