Biomarkers in patients with mucopolysaccharidosis type II and IV
Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers. To explore potential biomarkers and their correlation with GAGs, blood samples w...
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doaj-fc0f3739c01f423088fd3ce2fc4765052020-11-25T00:28:28ZengElsevierMolecular Genetics and Metabolism Reports2214-42692019-06-0119Biomarkers in patients with mucopolysaccharidosis type II and IVHonoka Fujitsuka0Kazuki Sawamoto1Hira Peracha2Robert W. Mason3William Mackenzie4Hironori Kobayashi5Seiji Yamaguchi6Yasuyuki Suzuki7Kenji Orii8Tadao Orii9Toshiyuki Fukao10Shunji Tomatsu11Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Medical Education Development Center, Gifu University, JapanNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United StatesNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Biological Sciences, University of Delaware, Newark, DE, United StatesNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Biological Sciences, University of Delaware, Newark, DE, United StatesNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United StatesDepartment of Pediatrics, Shimane University, Shimane, JapanDepartment of Pediatrics, Shimane University, Shimane, JapanMedical Education Development Center, Gifu University, JapanDepartment of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, JapanDepartment of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, JapanDepartment of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, JapanNemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States; Corresponding author at: Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Rd., Wilmington, DE 19899-0269, United States.Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers. To explore potential biomarkers and their correlation with GAGs, blood samples were collected from 46 MPS II patients, 34 MPS IVA patients, and 5 MPS IVB patients. We evaluated the levels of 8 pro-inflammatory factors (EGF, IL-1β, IL-6, MIP-1α, TNF-α, MMP-1, MMP-2, and MMP-9), collagen type II, and DS, HS (HS0S, HSNS), and KS (mono-sulfated, di-sulfated) in blood.Eight biomarkers measured were significantly elevated in untreated MPS II patients, compared with those in normal controls: EGF, IL-1β, IL-6, HS0S, HSNS, DS, mono-sulfated KS, and di-sulfated KS. The same eight biomarkers remained elevated in ERT-treated patients. However, only three biomarkers remained elevated in post-HSCT MPS II patients: EGF, mono-sulfated KS, and di-sulfated KS. Post-HSCT patients with MPS II showed that IL-1β and IL-6 were normalized as HS and DS levels decreased. Eight biomarkers were significantly elevated in untreated MPS IVA patients: EGF, IL-1β, IL-6, MIP-1α, MMP-9, HSNS, mono-sulfated KS, and di-sulfated KS, and four biomarkers were elevated in MPS IVA patients under ERT: IL-6, TNF-α, mono-sulfated KS, and di-sulfated KS. There was no reduction of KS in the ERT-treated MPS IVA patient, compared with untreated patients. Two biomarkers were significantly elevated in untreated MPS IVB patients: IL-6 and TNF-α.Reversely, collagen type II level was significantly decreased in untreated and ERT-treated MPS II patients and untreated MPS IVA patients.In conclusion, selected pro-inflammatory factors can be potential biomarkers in patients with MPS II and IV as well as GAGs levels. Keywords: Morquio syndrome, Hunter syndrome, Glycosaminoglycans, Cytokines, Inflammationhttp://www.sciencedirect.com/science/article/pii/S2214426918301265 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Honoka Fujitsuka Kazuki Sawamoto Hira Peracha Robert W. Mason William Mackenzie Hironori Kobayashi Seiji Yamaguchi Yasuyuki Suzuki Kenji Orii Tadao Orii Toshiyuki Fukao Shunji Tomatsu |
spellingShingle |
Honoka Fujitsuka Kazuki Sawamoto Hira Peracha Robert W. Mason William Mackenzie Hironori Kobayashi Seiji Yamaguchi Yasuyuki Suzuki Kenji Orii Tadao Orii Toshiyuki Fukao Shunji Tomatsu Biomarkers in patients with mucopolysaccharidosis type II and IV Molecular Genetics and Metabolism Reports |
author_facet |
Honoka Fujitsuka Kazuki Sawamoto Hira Peracha Robert W. Mason William Mackenzie Hironori Kobayashi Seiji Yamaguchi Yasuyuki Suzuki Kenji Orii Tadao Orii Toshiyuki Fukao Shunji Tomatsu |
author_sort |
Honoka Fujitsuka |
title |
Biomarkers in patients with mucopolysaccharidosis type II and IV |
title_short |
Biomarkers in patients with mucopolysaccharidosis type II and IV |
title_full |
Biomarkers in patients with mucopolysaccharidosis type II and IV |
title_fullStr |
Biomarkers in patients with mucopolysaccharidosis type II and IV |
title_full_unstemmed |
Biomarkers in patients with mucopolysaccharidosis type II and IV |
title_sort |
biomarkers in patients with mucopolysaccharidosis type ii and iv |
publisher |
Elsevier |
series |
Molecular Genetics and Metabolism Reports |
issn |
2214-4269 |
publishDate |
2019-06-01 |
description |
Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers. To explore potential biomarkers and their correlation with GAGs, blood samples were collected from 46 MPS II patients, 34 MPS IVA patients, and 5 MPS IVB patients. We evaluated the levels of 8 pro-inflammatory factors (EGF, IL-1β, IL-6, MIP-1α, TNF-α, MMP-1, MMP-2, and MMP-9), collagen type II, and DS, HS (HS0S, HSNS), and KS (mono-sulfated, di-sulfated) in blood.Eight biomarkers measured were significantly elevated in untreated MPS II patients, compared with those in normal controls: EGF, IL-1β, IL-6, HS0S, HSNS, DS, mono-sulfated KS, and di-sulfated KS. The same eight biomarkers remained elevated in ERT-treated patients. However, only three biomarkers remained elevated in post-HSCT MPS II patients: EGF, mono-sulfated KS, and di-sulfated KS. Post-HSCT patients with MPS II showed that IL-1β and IL-6 were normalized as HS and DS levels decreased. Eight biomarkers were significantly elevated in untreated MPS IVA patients: EGF, IL-1β, IL-6, MIP-1α, MMP-9, HSNS, mono-sulfated KS, and di-sulfated KS, and four biomarkers were elevated in MPS IVA patients under ERT: IL-6, TNF-α, mono-sulfated KS, and di-sulfated KS. There was no reduction of KS in the ERT-treated MPS IVA patient, compared with untreated patients. Two biomarkers were significantly elevated in untreated MPS IVB patients: IL-6 and TNF-α.Reversely, collagen type II level was significantly decreased in untreated and ERT-treated MPS II patients and untreated MPS IVA patients.In conclusion, selected pro-inflammatory factors can be potential biomarkers in patients with MPS II and IV as well as GAGs levels. Keywords: Morquio syndrome, Hunter syndrome, Glycosaminoglycans, Cytokines, Inflammation |
url |
http://www.sciencedirect.com/science/article/pii/S2214426918301265 |
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