Biomarkers in patients with mucopolysaccharidosis type II and IV

被引：45
|
作者：
Fujitsuka, Honoka [1 ,2 ]
Sawamoto, Kazuki [1 ]
Peracha, Hira [1 ,3 ]
Mason, Robert W. [1 ,3 ]
Mackenzie, William [1 ]
Kobayashi, Hironori [4 ]
Yamaguchi, Seiji [4 ]
Suzuki, Yasuyuki [2 ]
Orii, Kenji [5 ]
Orii, Tadao [5 ]
Fukao, Toshiyuki [5 ]
Tomatsu, Shunji [1 ,4 ,5 ,6 ]
机构：
[1] Nemours Alfred I DuPont Hosp Children, Wilmington, DE 19899 USA
[2] Gifu Univ, Med Educ Dev Ctr, Gifu, Japan
[3] Univ Delaware, Dept Biol Sci, Newark, DE USA
[4] Shimane Univ, Dept Pediat, Matsue, Shimane, Japan
[5] Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan
[6] Thomas Jefferson Univ, Dept Pediat, Philadelphia, PA 19107 USA
来源：
MOLECULAR GENETICS AND METABOLISM REPORTS | 2019年 / 19卷
基金：
美国国家卫生研究院;
关键词：
Morquio syndrome; Hunter syndrome; Glycosaminoglycans; Cytokines; Inflammation; BONE-MARROW-TRANSPLANTATION; ENZYME REPLACEMENT THERAPY; STEM-CELL TRANSPLANTATION; KERATAN SULFATE; HEPARAN-SULFATE; MATRIX METALLOPROTEINASES; GLYCOSAMINOGLYCAN LEVELS; INFLAMMATORY CYTOKINES; TRACHEAL OBSTRUCTION; JOINT DISEASE;
D O I：
10.1016/j.ymgmr.2019.100455
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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-1 beta, IL-6, MIP-1 alpha, TNF-alpha, 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-1 beta, 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-1 beta and IL-6 were normalized as HS and DS levels decreased. Eight biomarkers were significantly elevated in untreated MPS IVA patients: EGF, IL-1 beta, IL-6, MIP-1 alpha, MMP-9, HSNS, mono-sulfated KS, and di-sulfated KS, and four biomarkers were elevated in MPS IVA patients under ERT: IL-6, TNF-alpha, 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-alpha. 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.
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页数：9
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