CAST, Center for Advanced Studies and Technology, University G. d'Annunzio of Chieti-Pescara, 66100 Chieti, Italy.
DMSI, Department of Medicine and Aging Sciences, University G. d'Annunzio of Chieti-Pescara, 66100 Chieti, Italy.
Cells. 2022 Aug 9;11(16):2468. doi: 10.3390/cells11162468.
Calsequestrin 1 (CASQ1) and Ryanodine receptor 1 (RYR1) are two of the main players in excitation-contraction (EC) coupling. CASQ1-knockout mice and mice carrying a mutation in RYR1 (Y522S) linked to human malignant hyperthermia susceptibility (MHS) both suffer lethal hypermetabolic episodes when exposed to halothane (MHS crises) and to environmental heat (heat stroke, HS). The phenotype of Y522S is more severe than that of CASQ1-null mice. As MHS and HS are hypermetabolic responses, we studied the metabolism of adult CASQ1-null and Y522S mice using wild-type (WT) mice as controls. We found that CASQ1-null and Y522S mice have increased food consumption and higher core temperature at rest. By indirect calorimetry, we then verified that CASQ1-null and Y522S mice show an increased oxygen consumption and a lower respiratory quotient (RQ). The accelerated metabolism of CASQ1-null and Y522S mice was also accompanied with a reduction in body fat. Moreover, both mouse models displayed increased oxygen consumption and a higher core temperature during heat stress. The results collected suggest that metabolic rate, oxygen consumption, and body temperature at rest, all more elevated in Y522S than in CASQ1-null mice, could possibly be used as predictors of the level of susceptibility to hyperthermic crises of mice (and possibly humans).
钙释放激活蛋白 1(CASQ1)和兰尼碱受体 1(RYR1)是兴奋-收缩(EC)偶联的两个主要参与者。CASQ1 敲除小鼠和携带与人类恶性高热易感性(MHS)相关的 RYR1 突变(Y522S)的小鼠在暴露于氟烷(MHS 危机)和环境热(中暑,HS)时都会遭受致命的高代谢发作。Y522S 的表型比 CASQ1 缺失小鼠更严重。由于 MHS 和 HS 是高代谢反应,我们使用野生型(WT)小鼠作为对照研究了成年 CASQ1 缺失和 Y522S 小鼠的代谢。我们发现 CASQ1 缺失和 Y522S 小鼠的食物消耗增加,静息时核心体温升高。通过间接测热法,我们进一步证实 CASQ1 缺失和 Y522S 小鼠的耗氧量增加,呼吸商(RQ)降低。CASQ1 缺失和 Y522S 小鼠的代谢加速还伴随着体脂肪减少。此外,这两种小鼠模型在热应激时的耗氧量和核心体温均升高。收集的结果表明,代谢率、静息时的耗氧量和体温,在 Y522S 中比在 CASQ1 缺失小鼠中都更高,这些可能可以用作预测小鼠(可能还有人类)对高热危机易感性的指标。