Sipos Andrea, Ripszám Emese Rebeka, Molnár Judit Mária, Grosz Zoltán, Boczán Judit, Altorjay Melinda Borbála, Dézsi Livia, Csáti Anett, Babarczy Kristóf, Kovács Norbert, Hajdú Nándor, Pál Endre
Department of Neurology, Medical School, University of Pécs, 7623 Pécs, Hungary.
Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary.
Neurol Int. 2025 Jul 22;17(8):114. doi: 10.3390/neurolint17080114.
Spinal muscular atrophy (SMA) is a treatable motor neuron disease. Biomarkers for skeletal muscle atrophy are extremely important for measuring the effects of treatment and monitoring the natural course of the disease. The urinary titin N fragment (UNT) has recently been proven to be related to muscle damage. The UNT was measured in 41 patients with SMA and 41 healthy controls. Clinical data, functional tests, and laboratory findings were also recorded. We found significantly higher UNT levels in the patient samples than in the healthy subjects. The UNT was not related to disease type, functional test results, or serum creatine kinase levels. This cross-sectional study highlights the importance of the UNT as a potential noninvasive biomarker for spinal muscular atrophy. Its role can potentially be verified through longitudinal studies.
脊髓性肌萎缩症（SMA）是一种可治疗的运动神经元疾病。骨骼肌萎缩的生物标志物对于衡量治疗效果和监测疾病的自然病程极为重要。尿肌联蛋白N片段（UNT）最近已被证明与肌肉损伤有关。对41例SMA患者和41名健康对照者进行了UNT检测。还记录了临床数据、功能测试和实验室检查结果。我们发现患者样本中的UNT水平显著高于健康受试者。UNT与疾病类型、功能测试结果或血清肌酸激酶水平无关。这项横断面研究突出了UNT作为脊髓性肌萎缩症潜在无创生物标志物的重要性。其作用可能需要通过纵向研究来验证。
