Wang Liang, Xu Min, Liu Dawei, Liang Yingyin, Feng Pinning, Li Huan, Zhu Yuling, He Ruojie, Lin Jinfu, Zhang Huili, Liao Ziyu, Zhang Cheng
Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, No. 58 Zhongshan Road 2, Guangzhou, 510080, China.
Department of Dermatology, The Second Affiliated Hospital of Guangzhou Medical University, No. 250 Changgang East Road, Guangzhou, 510260, China.
BMC Neurol. 2021 Sep 25;21(1):372. doi: 10.1186/s12883-021-02382-7.
Dystrophinopathy, a common neuromuscular disorder, includes Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Many researches are currently ongoing to develop curative approaches, which results in an urgent need for biomarkers of disease progression and treatment response. This study investigated whether the serum creatinine (SCRN) level can be used as a biomarker of disease progression in dystrophinopathy.
We enrolled 377 male patients with dystrophinopathy and 520 male non-dystrophinopathy controls in a cross-sectional study. From this cohort, 113 follow-up patients were enrolled in a longitudinal study. Patients' demographic information, motor function, muscle fatty infiltration, and muscle dystrophin levels were evaluated. We investigated correlations between these parameters and SCRN levels, and determined changes in SCRN levels with maturation and with motor function changes.
Our results showed SCRN levels correlated with motor function (FDR < 0.001) and timed test results (FDR between < 0.001-0.012), as well as with muscle fatty infiltration (FDR < 0.001) and dystrophin levels (FDR = 0.015 and 0.001). SCRN levels increased with maturation in control individuals; it slowly increased with maturation in patients with BMD but decreased generally with maturation in patients with DMD. The longitudinal study further demonstrated that SCRN levels were associated with motor function.
These findings indicated that the SCRN level is a promising biomarker for assessing disease progression in dystrophinopathy and could be used as a potential outcome measure in clinical trials.
肌营养不良症是一种常见的神经肌肉疾病，包括杜氏肌营养不良症（DMD）和贝克肌营养不良症（BMD）。目前正在进行许多研究以开发治疗方法，这导致迫切需要疾病进展和治疗反应的生物标志物。本研究调查了血清肌酐（SCRN）水平是否可作为肌营养不良症疾病进展的生物标志物。
我们纳入了377例男性肌营养不良症患者和520例男性非肌营养不良症对照进行横断面研究。从该队列中，113例随访患者被纳入纵向研究。评估了患者的人口统计学信息、运动功能、肌肉脂肪浸润和肌肉肌营养不良蛋白水平。我们研究了这些参数与SCRN水平之间的相关性，并确定了SCRN水平随成熟度和运动功能变化的情况。
我们的结果显示，SCRN水平与运动功能（FDR<0.001）、定时测试结果（FDR在<0.001-0.012之间）、肌肉脂肪浸润（FDR<0.001）和肌营养不良蛋白水平（FDR=0.015和0.001）相关。在对照个体中，SCRN水平随成熟度增加；在BMD患者中，它随成熟度缓慢增加，但在DMD患者中通常随成熟度降低。纵向研究进一步表明，SCRN水平与运动功能相关。
这些发现表明，SCRN水平是评估肌营养不良症疾病进展的有前景的生物标志物，可作为临床试验中的潜在结局指标。
