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.