Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study.

IF 3 Q2 CLINICAL NEUROLOGY

Neurology International Pub Date : 2025-07-22 DOI:10.3390/neurolint17080114

Andrea Sipos, Emese Rebeka Ripszám, Judit Mária Molnár, Zoltán Grosz, Judit Boczán, Melinda Borbála Altorjay, Livia Dézsi, Anett Csáti, Kristóf Babarczy, Norbert Kovács, Nándor Hajdú, Endre Pál

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Abstract

Background: 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. Methods: The UNT was measured in 41 patients with SMA and 41 healthy controls. Clinical data, functional tests, and laboratory findings were also recorded. Results: 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. Conclusions: 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.

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成人脊髓性肌萎缩症尿Titin升高：一项多中心横断面观察研究。

背景：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测量治疗效果和监测疾病的自然过程非常重要。尿titin N片段（UNT）最近被证实与肌肉损伤有关。方法：测定41例SMA患者和41例健康对照者的UNT。还记录了临床资料、功能检查和实验室结果。结果：我们发现患者样本中的UNT水平明显高于健康受试者。UNT与疾病类型、功能测试结果或血清肌酸激酶水平无关。结论：这项横断面研究强调了UNT作为脊髓性肌萎缩症潜在的非侵入性生物标志物的重要性。它的作用可能会通过纵向研究得到验证。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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