Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy

IF 3.2 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinica Chimica Acta Pub Date : 2024-11-17 DOI:10.1016/j.cca.2024.120053

Hiroyuki Awano , Yoshinori Nambu , Kayo Osawa , Taku Shirakawa , Tsuyoshi Matsumura , Akiko Wakisaka , Satoshi Kuru , Michinori Funato , Yasuhiro Takeshima , Keiko Ishigaki , Michio Kobayashi , Tatsuharu Sato , Tatsuya Fujii , Kazuma Sugie , Koichi Kimura , Hirofumi Komaki , Akinori Nakamura , Masafumi Matsuo

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引用次数: 0

Abstract

Background

Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the DMD gene. Urinary titin, a degradation product of the giant protein titin present in muscle sarcomeres, has been used as a biomarker to reflect muscle degradation in Duchenne muscular dystrophy, a more severe dystrophinopathy. However, the clinical significance of urinary titin levels in BMD remains unclear. This study aimed to investigate the relationship between urinary titin levels and the clinical data in patients with BMD.

Methods

Urine samples were collected from 123 patients with BMD, and urinary titin levels were measured. The association of urinary titin with clinical data, including age, physical measurements, physical activity, blood tests, and cardiopulmonary test results, was examined.

Results

A total of 257 urine samples were obtained from patients of 5–79 years of age. The median urinary titin level was 72.6 pmol/mg Cr (range 0.2–4325.0 pmol/mg Cr). No strong correlation was found between urinary titin levels and age, physical measurements, physical function, blood test results, or cardiopulmonary function. However, on comparing clinical data between the age-matched high urinary titin (N = 94) and normal (N = 29) groups, the high urinary titin group had a significantly greater number of non-ambulatory cases (23.9 % vs. 3.6 %), weaker grip strength (16.3 vs. 32.0 kg), and higher serum creatine kinase (1072 vs. 398 U/L) and cardiac troponin I (10.6 vs. 2.5 pg/mL) levels.

Conclusion

Urinary titin was identified as a biomarker reflecting walking ability, muscle strength, and skeletal and cardiac damage in patients with BMD.

查看原文本刊更多论文

尿滴定蛋白反映了贝克型肌营养不良症患者行走能力、肌肉力量以及肌肉和心脏损伤的严重程度。

背景：贝克型肌营养不良症（BMD）是一种由DMD基因病理变异引起的肌营养不良症。尿液中的钛蛋白是存在于肌肉肌节中的巨蛋白钛蛋白的降解产物，已被用作反映杜氏肌营养不良症（一种更严重的肌营养不良症）肌肉退化的生物标志物。然而，尿液中的钛蛋白水平在 BMD 中的临床意义仍不明确。本研究旨在探讨 BMD 患者尿液中 titin 水平与临床数据之间的关系：方法：收集 123 名 BMD 患者的尿液样本，并测定尿液中的钛蛋白水平。方法：收集 123 名 BMD 患者的尿液样本并测定尿液中的钛蛋白水平，研究尿液中的钛蛋白与临床数据（包括年龄、体格测量、体力活动、血液检查和心肺测试结果）之间的关系：结果：共从 5-79 岁的患者身上采集了 257 份尿液样本。尿液中钛蛋白水平的中位数为 72.6 pmol/mg铬（范围为 0.2-4325.0 pmol/mg铬）。在尿液钛蛋白水平与年龄、体格测量、身体功能、血液检测结果或心肺功能之间没有发现很强的相关性。然而，在比较年龄匹配的高尿酸钛蛋白组（94 人）和正常组（29 人）的临床数据时发现，高尿酸钛蛋白组的非卧床病例数明显增多（23.9% 对 3.6%），握力较弱（16.3 对 32.0 千克），血清肌酸激酶（1072 对 398 U/L）和心肌肌钙蛋白 I（10.6 对 2.5 pg/mL）水平较高：结论：尿液中的钛蛋白被确定为一种生物标志物，可反映 BMD 患者的行走能力、肌肉力量以及骨骼和心脏损伤。

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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来源期刊

Clinica Chimica Acta 医学-医学实验技术

CiteScore

10.10

自引率

2.00%

发文量

1268

审稿时长

23 days

期刊介绍： The Official Journal of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Clinica Chimica Acta is a high-quality journal which publishes original Research Communications in the field of clinical chemistry and laboratory medicine, defined as the diagnostic application of chemistry, biochemistry, immunochemistry, biochemical aspects of hematology, toxicology, and molecular biology to the study of human disease in body fluids and cells. The objective of the journal is to publish novel information leading to a better understanding of biological mechanisms of human diseases, their prevention, diagnosis, and patient management. Reports of an applied clinical character are also welcome. Papers concerned with normal metabolic processes or with constituents of normal cells or body fluids, such as reports of experimental or clinical studies in animals, are only considered when they are clearly and directly relevant to human disease. Evaluation of commercial products have a low priority for publication, unless they are novel or represent a technological breakthrough. Studies dealing with effects of drugs and natural products and studies dealing with the redox status in various diseases are not within the journal''s scope. Development and evaluation of novel analytical methodologies where applicable to diagnostic clinical chemistry and laboratory medicine, including point-of-care testing, and topics on laboratory management and informatics will also be considered. Studies focused on emerging diagnostic technologies and (big) data analysis procedures including digitalization, mobile Health, and artificial Intelligence applied to Laboratory Medicine are also of interest.