Pegoraro Valentina, Cudia Paola, Baba Alfonc, Angelini Corrado
IRCCS San Camillo Hospital, Venice, Italy.
Neurol Sci. 2020 Oct;41(10):2953-2960. doi: 10.1007/s10072-020-04409-2. Epub 2020 Apr 29.
MiR-1 and myostatin are markers for muscle growth and regeneration. Myostatin has a key role in the regulation of muscle mass. Myotonic dystrophy type 1(DM1) patients have a disease-specific serum miRNA profile characterized by upregulation of miR-1, miR-206, miR-133a, and miR-133b (myomiRNAs).This study aims to evaluate the possible utility of myomiRs and myostatin as biomarkers of rehabilitation efficacy in DM1, supporting clinical outcomes that are often variable and related to the patient's clinical condition.In 9 genetically proven DM1 patients, we collected biological samples before (T0) and after (T1) exercise rehabilitation training as biological measurement. We measured serum myomiRNAs by qRT-PCR and myostatin by ELISA test. The clinical outcomes measures that we utilized during a 3-6 week rehabilitation controlled aerobic exercise period were the 6-min walking test (6MWT) that increased significantly of 53.5 m (p < 0.0004) and the 10-m walk test (10MWT) that decreased of 1.38 s.We observed, after physical rehabilitation, a significant downregulation of myomiRNAs and myostatin that occurred in parallel with the improvement of clinical functional outcome measures assessed as endurance and gait speed, respectively.The modulation of biomarkers may reflect muscle regeneration and increase muscle mass after aerobic exercise. miRNAs and myostatin might be considered as circulating biomarkers of DM1 rehabilitation. The efficacy of physical rehabilitation in counteracting molecular pathways responsible for muscle atrophy and disease progression and the role of these biomarkers in DM1 and other neuromuscular diseases warrant further investigation.
微小RNA-1（MiR-1）和肌肉生长抑制素是肌肉生长和再生的标志物。肌肉生长抑制素在肌肉量的调节中起关键作用。1型强直性肌营养不良（DM1）患者具有疾病特异性的血清微小RNA谱，其特征为MiR-1、MiR-206、MiR-133a和MiR-133b（肌微小RNA）上调。本研究旨在评估肌微小RNA和肌肉生长抑制素作为DM1康复疗效生物标志物的潜在效用，以支持通常变化且与患者临床状况相关的临床结果。在9名经基因证实的DM1患者中，我们在运动康复训练前（T0）和后（T1）收集生物样本作为生物学测量。我们通过定量逆转录聚合酶链反应（qRT-PCR）测量血清肌微小RNA，通过酶联免疫吸附测定（ELISA）测试测量肌肉生长抑制素。在为期3 - 6周的康复控制性有氧运动期间，我们使用的临床结果测量指标为6分钟步行试验（6MWT），其显著增加了53.5米（p < 0.0004），以及10米步行试验（10MWT），其减少了1.38秒。我们观察到，在身体康复后，肌微小RNA和肌肉生长抑制素显著下调，这分别与评估为耐力和步速的临床功能结果指标的改善同时发生。生物标志物的调节可能反映有氧运动后肌肉再生并增加肌肉量。微小RNA和肌肉生长抑制素可能被视为DM1康复的循环生物标志物。身体康复在对抗导致肌肉萎缩和疾病进展分子途径方面的疗效以及这些生物标志物在DM1和其他神经肌肉疾病中的作用值得进一步研究。
