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탠덤 질량분석기를 이용한 헌터 증후군과 연관된 iduronate-2-sulfatase 효소 활성도 직접 검사법 개발 : Development of Direct Assay of Iduronate-2-Sulfatase for Mucopolysaccharidosis II (Hunter Syndrome) Using UPLC-Tandem Mass Spectrometry
DC Field | Value | Language |
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dc.contributor.advisor | 송정한 | - |
dc.contributor.author | 이경훈 | - |
dc.date.accessioned | 2017-07-19T10:29:23Z | - |
dc.date.available | 2017-07-19T10:29:23Z | - |
dc.date.issued | 2015-02 | - |
dc.identifier.other | 000000026066 | - |
dc.identifier.uri | https://hdl.handle.net/10371/132767 | - |
dc.description | 학위논문 (석사)-- 서울대학교 대학원 : 의학과, 2015. 2. 송정한. | - |
dc.description.abstract | Introduction: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency in iduronate-2-sulfatase. MPS II is a chronic, progressive lysosomal storage disorder that affects multiple organ systems but is challenging to diagnose during the early stages. Here we developed and evaluated the performance of ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) with a commercially available substrate for the detection of MPS II.
Methods: 4-Methylumbelliferyl α-L-idopyranosiduronic acid 2-sulfate (IDS-S) was used as a substrate for IDS, and its enzymatic product, 4-methylumbelliferyl α-L-idopyranosiduronic acid (IDS-P), was directly measured by UPLC-MS/MS. We determined the precision of our enzyme assay and the effects of sample amounts and incubation time on the results. Dried blood spots (DBSs) of 26 normal newborns and two patients with MPS II were analyzed. Results: The intra- and inter-assay precisions were 7.9–10.5% and 4.8–10.2%, respectively. The amount of product obtained was proportional to the number of DBSs | - |
dc.description.abstract | however, a slight flattening was observed in the product versus DBS curve for more than one DBS. For our enzyme assay, the amount of product obtained increased linearly with the incubation period from 0 to 15 h. The enzyme activities measured in the DBSs were consistently lower in patients with MPS II than in normal newborns.
Conclusions: The performance of our enzyme assay was generally acceptable. In addition, it may be possible to simultaneously test multiple enzymes related to lysosomal storage diseases. To the best of our knowledge, this is the first report describing the use of MS/MS for the diagnosis of MPS II with a commercially available substrate. Our method provides a rapid, inexpensive, effective screening tool for the diagnosis of MPS II worldwide. | - |
dc.description.tableofcontents | CONTENTS
Abstract i Contents iii List of tables iv List of Figures v List of Abbreviations and Symbols vi Introduction 1 Materials and Methods 3 1. Materials 3 2. Enzyme assay procedures 4 3. UPLC-MS/MS conditions 5 4. Determining of precision 7 5. Effect of sample amount and incubation time 8 6. Evaluation of ion suppression 9 7. DBSs of patients and normal individuals 10 Results 11 1. Materials and method development of UPLC-MS/MS 11 2. Precision 14 3. Effect of sample amount and incubation time 16 4. Enzyme activities in DBSs of patients and normal newborns 20 Discussion 23 References 26 Abstract in Korean 29 | - |
dc.format | application/pdf | - |
dc.format.extent | 854482 bytes | - |
dc.format.medium | application/pdf | - |
dc.language.iso | en | - |
dc.publisher | 서울대학교 대학원 | - |
dc.subject | Mucopolysaccharidosis | - |
dc.subject | Hunter syndrome | - |
dc.subject | Tandem mass spectrometry | - |
dc.subject | Dried blood spot | - |
dc.subject.ddc | 610 | - |
dc.title | 탠덤 질량분석기를 이용한 헌터 증후군과 연관된 iduronate-2-sulfatase 효소 활성도 직접 검사법 개발 | - |
dc.title.alternative | Development of Direct Assay of Iduronate-2-Sulfatase for Mucopolysaccharidosis II (Hunter Syndrome) Using UPLC-Tandem Mass Spectrometry | - |
dc.type | Thesis | - |
dc.contributor.AlternativeAuthor | Kyunghoon Lee | - |
dc.description.degree | Master | - |
dc.citation.pages | vi,30 | - |
dc.contributor.affiliation | 의과대학 의학과 | - |
dc.date.awarded | 2015-02 | - |
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