患有巴斯综合征的儿童、青少年和年轻人的心肌和骨骼肌生物能量学受损。
Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome.
作者信息
Bashir Adil, Bohnert Kathryn L, Reeds Dominic N, Peterson Linda R, Bittel Adam J, de las Fuentes Lisa, Pacak Christina A, Byrne Barry J, Cade W Todd
机构信息
Department of Radiology, Washington University School of Medicine, St. Louis, Missouri.
Department of Electrical and Computer Engineering, Auburn University, Auburn, Alabama.
出版信息
Physiol Rep. 2017 Feb;5(3). doi: 10.14814/phy2.13130.
UNLABELLED
Barth syndrome (BTHS) is an X-linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with BTHS and unaffected controls and examine their relationships with cardiac function and exercise capacity. Children/adolescents and young adults with BTHS ( = 20) and children/adolescent and young adult control participants ( = 23, total = 43) underwent P magnetic resonance spectroscopy (P-MRS) of the lower extremity (calf) and heart for estimation of skeletal muscle and cardiac bioenergetics. Peak exercise testing (VO) and resting echocardiography were also performed on all participants. Cardiac PCr/ATP ratio was significantly lower in children/adolescents (BTHS: 1.5 ± 0.2 vs.
CONTROL
2.0 ± 0.3, < 0.01) and adults (BTHS: 1.9 ± 0.2 vs.
CONTROL
2.3 ± 0.2, < 0.01) with BTHS compared to Control groups. Adults (BTHS: 76.4 ± 31.6 vs.
CONTROL
35.0 ± 7.4 sec, < 0.01) and children/adolescents (BTHS: 71.5 ± 21.3 vs.
CONTROL
31.4 ± 7.4 sec, < 0.01) with BTHS had significantly longer calf PCr recovery (PCr) postexercise compared to controls. Maximal calf ATP production through oxidative phosphorylation (Qmax-lin) was significantly lower in children/adolescents (BTHS: 0.5 ± 0.1 vs.
CONTROL
1.1 ± 0.3 mmol/L per sec, < 0.01) and adults (BTHS: 0.5 ± 0.2 vs.
CONTROL
1.0 ± 0.2 mmol/L sec, < 0.01) with BTHS compared to controls. Blunted cardiac and skeletal muscle bioenergetics were associated with lower O but not resting cardiac function. Cardiac and skeletal muscle bioenergetics are impaired and appear to contribute to exercise intolerance in BTHS.
未标记
巴特综合征（BTHS）是一种X连锁疾病，其特征为心磷脂代谢改变和心肌骨骼肌病。我们试图比较患有BTHS的儿童、青少年和年轻成年人与未受影响的对照组的心脏和骨骼肌生物能量学，并研究它们与心脏功能和运动能力的关系。患有BTHS的儿童/青少年和年轻成年人（n = 20）以及儿童/青少年和年轻成年人对照组参与者（n = 23，共43人）接受了下肢（小腿）和心脏的³¹P磁共振波谱（³¹P-MRS）检查，以评估骨骼肌和心脏生物能量学。所有参与者还进行了峰值运动测试（VO₂）和静息超声心动图检查。与对照组相比，患有BTHS的儿童/青少年（BTHS：1.5 ± 0.2 vs. 对照组：2.0 ± 0.3，P < 0.01）和成年人（BTHS：1.9 ± 0.2 vs. 对照组：2.3 ± 0.2，P < 0.01）的心脏磷酸肌酸/三磷酸腺苷（PCr/ATP）比值显著降低。与对照组相比，患有BTHS的成年人（BTHS：76.4 ± 31.6 vs. 对照组：35.0 ± 7.4秒，P < 0.01）和儿童/青少年（BTHS：71.5 ± 21.3 vs. 对照组：31.4 ± 7.4秒，P < 0.01）运动后小腿磷酸肌酸恢复（PCr）时间显著更长。与对照组相比，患有BTHS的儿童/青少年（BTHS：0.5 ± 0.1 vs. 对照组：1.1 ± 0.3 mmol/L每秒，P < 0.01）和成年人（BTHS：0.5 ± 0.2 vs. 对照组：1.0 ± 0.2 mmol/L每秒，P < 0.01）通过氧化磷酸化产生的最大小腿三磷酸腺苷（Qmax-lin）显著更低。心脏和骨骼肌生物能量学减弱与较低的VO₂相关，但与静息心脏功能无关。心脏和骨骼肌生物能量学受损，似乎导致了BTHS患者的运动不耐受。
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