{"title":"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。","authors":"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","doi":"10.1016/j.cca.2024.120053","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the <em>DMD</em> 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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>Urinary titin was identified as a biomarker reflecting walking ability, muscle strength, and skeletal and cardiac damage in patients with BMD.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120053"},"PeriodicalIF":3.2000,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy\",\"authors\":\"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\",\"doi\":\"10.1016/j.cca.2024.120053\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the <em>DMD</em> 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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>Urinary titin was identified as a biomarker reflecting walking ability, muscle strength, and skeletal and cardiac damage in patients with BMD.</div></div>\",\"PeriodicalId\":10205,\"journal\":{\"name\":\"Clinica Chimica Acta\",\"volume\":\"566 \",\"pages\":\"Article 120053\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2024-11-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinica Chimica Acta\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0009898124023064\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinica Chimica Acta","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0009898124023064","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy
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.
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.