RT Journal Article
T1 Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA
A1 Álvarez González, José Víctor
A1 Bravo López, Susana Belén
A1 Chantada Vázquez, María del Pilar
A1 Colón Mejeras, Cristóbal
A1 Castro López, María José de
A1 Morales, Montserrat
A1 Vitoria, Isidro
A1 Tomatsu, Shunji
A1 Otero Espinar, Francisco Javier
A1 Couce Pico, María Luz
K1 Biomarkers
K1 Enzyme replacement therapy
K1 Lysosomal disorders
K1 Proteomics
AB Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Skeletal dysplasia and the related clinical features of MPS IVA are caused by disruption of the cartilage and its extracellular matrix, leading to a growth imbalance. Enzyme replacement therapy (ERT) with recombinant human GALNS has yielded positive results in activity of daily living and endurance tests. However, no data have demonstrated improvements in bone lesions and bone grow thin MPS IVA after ERT, and there is no correlation between therapeutic efficacy and urine levels of keratan sulfate, which accumulates in MPS IVA patients. Using qualitative and quantitative proteomics approaches, we analyzed leukocyte samples from healthy controls (n = 6) and from untreated (n = 5) and ERT-treated (n = 8, sampled before and after treatment) MPS IVA patients to identify potential biomarkers of disease. Out of 690 proteins identified in leukocytes, we selected a group of proteins that were dysregulated in MPS IVA patients with ERT. From these, we identified four potential protein biomarkers, all of which may influence bone and cartilage metabolism: lactotransferrin, coronin 1A, neutral alpha-glucosidase AB, and vitronectin. Further studies of cartilage and bone alterations in MPS IVA will be required to verify the validity of these proteins as potential biomarkers of MPS IVA
PB MDPI
YR 2021
FD 2021
LK http://hdl.handle.net/10347/24188
UL http://hdl.handle.net/10347/24188
LA eng
NO Álvarez, V.J.; Bravo, S.B.; Chantada-Vazquez, M.P.; Colón, C.; De Castro, M.J.; Morales, M.; Vitoria, I.; Tomatsu, S.; Otero-Espinar, F.J.; Couce, M.L. Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA. Int. J. Mol. Sci. 2021, 22, 226
DS Minerva
RD 22 abr 2026