Research Center for Locomotion Biology, Kobe Gakuin University, Kobe, Japan; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan.
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Clin Chim Acta. 2018 Nov;486:110-114. doi: 10.1016/j.cca.2018.07.041. Epub 2018 Jul 24.
Duchenne muscular dystrophy (DMD) is a progressive, fatal muscle wasting disease. Early detection of DMD by mass screening may enable the early treatment of these patients. We have reported that urinary titin concentration, an indicator of severe muscle wasting, is a diagnostic biomarker for DMD.
Urinary titin concentrations were measured in healthy 3-y-old children and, by comparison with concentrations in 4 DMD patients, and validated as a screening biomarker for DMD. Urine samples were obtained from 100 healthy Japanese children, 52 boys and 48 girls, and their urinary titin concentrations measured by ELISA.
The mean ± SD urinary titin concentration was 1.5 ± 2.5 nmol/l, and the mean urinary titin concentration normalized to creatinine was 2.2 ± 4.1 pmol/mg creatinine, with no differences between boys and girls. Histograms and box-and-whisker plots showed that almost all titin and normalized titin concentrations were in narrow ranges, with one outlier in common. Receiver operating characteristic curve analysis showed that titin and normalized-titin concentrations from healthy 3-y-olds were completely separate from those of 3-y-old DMD patients.
These findings indicate that urinary titin may be an excellent non-invasive biomarker to screen for DMD.
杜氏肌营养不良症（DMD）是一种进行性、致命的肌肉消耗疾病。通过大规模筛查早期发现 DMD，可能使这些患者得到早期治疗。我们曾报道，尿中的titin 浓度是一种严重肌肉消耗的指标，可作为 DMD 的诊断生物标志物。
我们检测了健康 3 岁儿童的尿 titin 浓度，并与 4 例 DMD 患者的浓度进行比较，验证了其作为 DMD 筛查生物标志物的有效性。我们收集了 100 名健康日本儿童的尿样，其中男童 52 名，女童 48 名，采用 ELISA 法检测尿 titin 浓度。
尿 titin 的平均浓度为 1.5±2.5 nmol/L，尿 titin 与肌酐比值的平均浓度为 2.2±4.1 pmol/mg 肌酐，男童和女童之间无差异。尿 titin 和尿 titin 与肌酐比值的直方图和箱线图显示，几乎所有的 titin 浓度和归一化 titin 浓度均在狭窄范围内，且有一个共同的离群值。受试者工作特征曲线分析显示，健康 3 岁儿童的 titin 和归一化 titin 浓度与 3 岁 DMD 患者的浓度完全分开。
这些发现表明，尿 titin 可能是筛查 DMD 的一种极好的非侵入性生物标志物。
