サトウ　タカトシ   佐藤　孝俊    所属   医学部 医学科（東京女子医科大学病院）    職種   助教
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy.
掲載誌名	正式名：Neuromuscular disorders : NMD 略　 称：Neuromuscul Disord ISSNコード：18732364/09608966
掲載区分	国外
巻・号・頁	31(3),pp.194-197
著者・共著者	Sato Takatoshi, Awano Hiroyuki, Ishiguro Kumiko, Shichiji Minobu, Murakami Terumi, Shirakawa Taku, Matsuo Masafumi, Nagata Satoru, Ishigaki Keiko
発行年月	2021/03
概要	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