Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy |
| |
| Authors: | Takatoshi Sato Hiroyuki Awano Kumiko Ishiguro Minobu Shichiji Terumi Murakami Taku Shirakawa Masafumi Matsuo Satoru Nagata Keiko Ishigaki |
| |
| Institution: | 1. Department of Pediatrics, School of Medicine, Tokyo Women''s Medical University, 8-1 Kawadacho, Shinjuku-ku, Tokyo 162-8666, Japan;2. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan;3. Research Center for Locomotion Biology, Kobe Gakuin University, Kobe, Japan;1. The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health 30 Guildford Street, London, WC1N 1EH, United Kingdom;2. Department of Musculoskeletal Histopathology and the Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital NHS Trust, Oswestry, SY10 7AG United Kingdom;3. Department of Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance NHS Group, Stott Lane, Salford M6 8HD United Kingdom;1. Pharmacology-physiology Department, Université de Sherbrooke, Saguenay, QC, Canada;2. Centre intégré universitaire de santé et de services sociaux du Saguenay–Lac-Saint-Jean (Chicoutimi University Hospital), Saguenay, QC, Canada;3. Family Medicine and Emergency Department, Université de Sherbrooke, Saguenay, QC, Canada;4. Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Jonquière, QC, Canada;5. Centre de Recherche Charles-Le-Moyne-Saguenay-Lac-St-Jean sur les innovations en santé, Sherbrooke University, Longueuil/Saguenay, QC, Canada;1. The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom;2. Department of Musculoskeletal Histopathology and the Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital NHS Trust, Oswestry, SY10 7AG, United Kingdom;3. Department of Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance NHS Group, Stott Lane, Salford M6 8HD, United Kingdom;4. The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom;5. The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health 30 Guildford Street, London, WC1N 1EH, United Kingdom;6. Atkinson-Morley Neuromuscular Centre, Department of Neurology, St George’s University Hospitals NHS Foundation Trust, London, SW17 0QT, United Kingdom;7. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom;8. Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom;1. Chair of Cardiology, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli” Monaldi Hospital, Naples, Italy;2. Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania “Luigi Vanvitelli”, Naples, Italy |
| |
| Abstract: | Fukuyama congenital muscular dystrophy (FCMD) is the second most prevalent childhood-onset muscular dystrophy in Japan. It is an autosomal recessive disorder caused by the fukutin mutation (FKTN), characterized by muscle wasting and brain abnormalities. So far, serum creatine kinase (CK) is recognized as the only biomarker for FCMD. Recently, an ELISA assay to quantify the N-terminal fragment of titin in urine was developed. Urinary titin concentration is elevated in patients with Duchenne muscular dystrophy (DMD) compared to normal controls. Levels vary according to age with excellent sensitivity and specificity for detecting DMD, and they can be used as a diagnostic and disease progression marker. In this study, we measured the urinary titin concentration of 18 patients with FCMD. It was remarkably higher than normal controls and correlated with CK. Especially in homozygotes, the score for gross motor function measure, which is a quantitative motor scale for FCMD, was correlated with urinary titin concentration. Elevated urinary titin concentrations were thought to be reflective of a common pathophysiology with DMD. Urinary titin concentrations can assist with making the diagnosis of FCMD and to estimate the patient's motor function at that point. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
