第八届北京罕见病学术大会暨2020京津冀罕见病学术大会征文（131)

1. Department of Clinical Laboratory， Chinese PLA General Hospital，

2. Department of pediatrics， Chinese PLA General Hospital，

Xiaozhou Yuan 1， Yan Meng 2， Chen Chen1， Shuang Liang 1， Yating Ma 1， Wencan Jiang 1， Jinyan Duan 1*， Chengbin Wang 1*

* The corresponding author， Jinyan Duan， Chengbin Wang，

Abstract

Mucopolysaccharindosis typeⅡ(MPSⅡ) is a rare lysosomal storage disorder caused by deficient or absent activity of the iduronate-2-sulfatase(IDS) enzyme， which leads to pathological accumulation of the glycosaminoglycans(GAGs). The absence of early diagnosis can result in irreversible physiological， neurological， and physiological damage. Moreover， the etiology of physiological dysfunction in MPSⅡ is unclear， which hampering the development of new treatment. Thus， there is a great need for simple， reliable biomarker for early diagnosis and exploration of pathogenic mechanism. Proteomics provides powerful tool to clarify the protein expression alterations and study complicated pathological process. This study was performed to identify the differential protein profile in urines of MPSⅡpatients using two-dimensional gel electrophoresis(2D-PAGE)combining with MALDI-TOF/TOF and a total of 15 differentially expressed proteins were identified. Content of alpha1-antitrypsin， Gm2 activator and lipocalin-type prostaglandin D synthase was measured by ELISA method. The value of urinary α1-AT/Cr in MPSⅡ group was 0.79±0.10mg/mmol， significantly higher than 0.42±0.05 mg/mmol in healthy control group; whereas the value of GM2A/Cr and L-PGDS/Cr in MPSⅡ group was 1.30±0.12 μg/mmol and 9.86±1.16 ng/mmol respectively， which was significantly lower than 2.19±0.19 μg/mmol and 13.98±1.48 ng/mmol in healthy control group. The proteins can be considered as accessory diagnostic biomarkers for MPS Ⅱ. This approach helped to discover early diagnostic markers and provided a better understanding of the pathogenic mechanism of MPSⅡ.

Keywords  Mucopolysaccharindosis；Proteomics；Two-dimensional gel electrophoresis