公开(公告)号：EP3546592A1

公开(公告)日：2019-10-02

申请号：EP17874580.8

申请日：2017-10-20

申请人： Kyungpook National University Industry-Academic Cooperation Foundation ,  IUCF-HYU (Industry-University Cooperation Foundation Hanyang University) ,  Samsung Life Public Welfare Foundation

发明人： BAE, Jae-Sung ,  JIN, Hee Kyung ,  LEE, Ju Youn ,  KIM, Seung Hyun ,  KI, Chang-Seok

IPC分类号： C12Q1/68 ,  C12Q1/44 ,  G01N33/68

摘要： The present invention relates to a amyotrophic lateral sclerosis (ALS) diagnostic composition using acid sphingomyelinase (ASM), and a method for detecting diagnostic markers and, more specifically, to a method and a composition for detecting markers for ALS, the method comprising the steps of: (a) providing a sample of a subject; (b) measuring the ASM expression level or the enzyme activation level in the sample; (c) determining that a subject, of which the ASM expression level or the enzyme activation level is increased compared to that of a normal person, has ALS. According to the investigation of the present inventors, the activity of ASM, among lipids and enzymes related to the sphingolipid metabolism, is specifically increased in a sample of an ALS patient compared to that of a normal person. ASM can be used as a marker for diagnosing ALS, thereby enabling the development of a novel and effective diagnostic reagent.