佐藤　孝俊    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Assistant Professor
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy.
Journal	Formal name：Neuromuscular disorders : NMD Abbreviation：Neuromuscul Disord ISSN code：18732364/09608966
Domestic / Foregin	Foregin
Volume, Issue, Page	31(3),pp.194-197
Author and coauthor	Sato Takatoshi, Awano Hiroyuki, Ishiguro Kumiko, Shichiji Minobu, Murakami Terumi, Shirakawa Taku, Matsuo Masafumi, Nagata Satoru, Ishigaki Keiko
Publication date	2021/03
Summary	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.
DOI	10.1016/j.nmd.2021.01.005
PMID	33563515