Tankeu Aurel T, Van Winckel Geraldine, Campos-Xavier Belinda, Braissant Olivier, Pedro Rosette, Superti-Furga Andrea, Amati Francesca, Tran Christel
Aging and Muscle Metabolism Lab, Department of Biomedical Sciences, School of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
Center for Molecular Diseases, Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Mol Genet Metab Rep. 2021 Mar 26;27:100746. doi: 10.1016/j.ymgmr.2021.100746. eCollection 2021 Jun.
Background Cystationine β-synthase (CBS) deficiency is a genetic disorder characterized by severe hyperhomocysteinemia and thrombotic complications. In healthy individuals, physical exercise may result in a transient increase in plasma total homocysteine (tHcy) raising the possibility that exercise might be detrimental in CBS deficiency. Our main objective was to determine plasma tHcy kinetics in response to physical exercise in homocystinuria patients. Methods Six adult patients (2 males, 4 females) with homocystinuria and 6 age- and gender-matched controls completed a 30-min aerobic exercise of moderate-intensity with fixed power output (50 W for women and 100 W for men). Blood samples were drawn before, immediately, 180 min and 24 h after exercise. tHcy levels were determined by standard procedures; substrate oxidation and energy expenditure were measured using indirect calorimetry. Results Acute exercise was well tolerated and safe in patients and controls. During the exercise bout, heart rate and energy expenditure increased equally in both groups. tHcy levels were higher in patients compared to controls at all time points ( < 0.05). There was no significant effect of exercise on tHcy levels at any time point ( = 0.36). Although two patients with partial pyridoxine responsiveness presented higher homocysteine responses, their highest value remained below 55 μmol/l. Conclusions Overall metabolic responses to acute exercise were similar between homocystinuria patients and controls; specifically, exercise did not significantly change tHcy concentrations. Moderate physical exercise was well tolerated without any adverse event in our cohort of patients. Further studies are needed to identify the effects of different intensities and modes of exercise in larger cohorts of CBS patients with different levels of pyridoxine responsiveness.
胱硫醚β-合酶（CBS）缺乏症是一种遗传性疾病，其特征为严重的高同型半胱氨酸血症和血栓形成并发症。在健康个体中，体育锻炼可能导致血浆总同型半胱氨酸（tHcy）短暂升高，这增加了运动在CBS缺乏症中可能有害的可能性。我们的主要目标是确定同型胱氨酸尿症患者运动后血浆tHcy的动力学变化。方法：6名成年同型胱氨酸尿症患者（2名男性，4名女性）和6名年龄及性别匹配的对照者完成了30分钟中等强度的有氧运动，功率输出固定（女性为50瓦，男性为100瓦）。在运动前、运动结束时、运动后180分钟和24小时采集血样。tHcy水平通过标准程序测定；底物氧化和能量消耗使用间接量热法测量。结果：急性运动在患者和对照者中耐受性良好且安全。在运动期间，两组的心率和能量消耗均同等增加。在所有时间点，患者的tHcy水平均高于对照者（P<0.05）。运动在任何时间点对tHcy水平均无显著影响（P=0.36）。虽然两名对维生素B6部分有反应的患者呈现出较高的同型半胱氨酸反应，但他们的最高值仍低于55μmol/l。结论：同型胱氨酸尿症患者和对照者对急性运动的总体代谢反应相似；具体而言，运动并未显著改变tHcy浓度。在我们的患者队列中，中等强度的体育锻炼耐受性良好，未发生任何不良事件。需要进一步研究以确定不同强度和运动方式对更大队列中不同维生素B6反应水平的CBS患者的影响。
