■脊髓性肌萎缩,Jokela型(SMAJ)是一种罕见的常染色体显性遗传形式的脊髓性肌萎缩,由CHCHD10中的点突变c.197G>T引起。已知CHCHD10参与线粒体功能的调节,即使SMAJ患者不存在线粒体疾病的多器官症状。我们旨在表征SMAJ受试者与健康对照组和线粒体肌病患者的心肺氧化能力。
■11位经过基因验证的SMAJ患者,26例线粒体肌病(MM),28名健康志愿者接受了心肺运动试验,并进行了乳酸和氨采样。使用线性模型分析了诊断组对测试结果的影响。
■根据性别调整,年龄,BMI,SMAJ组功率输出较低(p<0.001),最大耗氧量(VO2max)(p<0.001),与健康对照组相比,机械效率(p<0.001),但与MM相似。在SMAJ组和健康对照组中,静息时测得的血浆乳酸低于MM,轻度锻炼,运动后30分钟(p≤0.001-0.030),SMAJ中的乳酸低于对照组和MM,在纵向分析中p=0.018。在MM中,氧气的通气当量较高(p=0.040),与健康对照组(p=0.023)和SMAJ受试者相比,最大运动中的潮气末CO2分数较低。
■在心肺运动试验中,SMAJ患者的功率输出和氧化能力下降与线粒体肌病患者相似,但未表现出线粒体疾病的典型表现.
UNASSIGNED: Spinal muscular atrophy, Jokela type (SMAJ) is a rare autosomal dominantly hereditary form of spinal muscular atrophy caused by a point mutation c.197G>T in CHCHD10. CHCHD10 is known to be involved in the regulation of mitochondrial function even though patients with SMAJ do not present with multiorgan symptoms of mitochondrial disease. We aimed to characterize the cardiopulmonary oxidative capacity of subjects with SMAJ compared to healthy controls and patients with mitochondrial myopathy.
UNASSIGNED: Eleven patients with genetically verified SMAJ, 26 subjects with mitochondrial myopathy (MM), and 28 healthy volunteers underwent a cardiopulmonary exercise test with lactate and ammonia sampling. The effect of the diagnosis group on the test results was analysed using a linear model.
UNASSIGNED: Adjusted for sex, age, and BMI, the SMAJ group had lower power output (p < 0.001), maximal oxygen consumption (VO2 max) (p < 0.001), and mechanical efficiency (p < 0.001) compared to the healthy controls but like that in MM. In the SMAJ group and healthy controls, plasma lactate was lower than in MM measured at rest, light exercise, and 30 min after exercise (p ≤ 0.001-0.030) and otherwise lactate in SMAJ was lower than controls and MM, in longitudinal analysis p = 0.018. In MM, the ventilatory equivalent for oxygen was higher (p = 0.040), and the fraction of end-tidal CO2 lower in maximal exercise compared to healthy controls (p = 0.023) and subjects with SMAJ.
UNASSIGNED: In cardiopulmonary exercise test, subjects with SMAJ showed a similar decrease in power output and oxidative capacity as subjects with mitochondrial myopathy but did not exhibit findings typical of mitochondrial disease.