Trusted Resources: Education
Scientific literature and patient education texts
Plasma Proteomic Analysis in Morquio A Disease
source: International journal of molecular sciences
year: 2021
authors: Álvarez JV,Bravo SB,Chantada-Vázquez MP,Barbosa-Gouveia S,Colón C,López-Suarez O,Tomatsu S,Otero-Espinar FJ,Couce ML
summary/abstract:Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal disease caused by mutations in the gene encoding the enzyme-acetylgalactosamine-6-sulfate sulfatase (GALNS), and is characterized by systemic skeletal dysplasia due to excessive storage of keratan sulfate (KS) and chondroitin-6-sulfate in chondrocytes. Although improvements in the activity of daily living and endurance tests have been achieved with enzyme replacement therapy (ERT) with recombinant human GALNS, recovery of bone lesions and bone growth in MPS IVA has not been demonstrated to date. Moreover, no correlation has been described between therapeutic efficacy and urine levels of KS, which accumulates in MPS IVA patients. The objective of this study was to assess the validity of potential biomarkers proposed by other authors and to identify new biomarkers. To identify candidate biomarkers of this disease, we analyzed plasma samples from healthy controls (=6) and from untreated (=8) and ERT-treated (=5, sampled before and after treatment) MPS IVA patients using both qualitative and quantitative proteomics analyses. The qualitative proteomics approach analyzed the proteomic profile of the different study groups. In the quantitative analysis, we identified/quantified 215 proteins after comparing healthy control untreated, ERT-treated MPSIVA patients. We selected a group of proteins that were dysregulated in MPS IVA patients. We identified four potential protein biomarkers, all of which may influence bone and cartilage metabolism: fetuin-A, vitronectin, alpha-1antitrypsin, and clusterin. Further studies of cartilage and bone samples from MPS IVA patients will be required to verify the validity of these proteins as potential biomarkers of MPS IVA.
organization: Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.DOI: 10.3390/ijms22116165
read more
Related Content
-
Demographic, Clinical, and Ancestry Characterization of a Large Cluster of Mucopolysaccharidosis IV A in the Brazili...Mucopolysaccharidosis (MPS) IVA is a rar...
-
Molecular Characterization of Mucopolysaccharidosis Type IVA Patients in the Andean Region of ColombiaColombia has a high prevalence of mucopo...
-
Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VIDefective development of the anterior po...
-
Treatment of Skeletal and Non-Skeletal Alterations of Mucopolysaccharidosis Type IVA by AAV-Mediated Gene TherapyMucopolysaccharidosis type IVA (MPSIVA) ...
-
Disease Burden, Management Patterns and Multidisciplinary Clinical Approaches for Patients With MPS IVA and VI in Se...There is a paucity of real-world epidemi...
-
A Guide to Understanding MPS IVMPS IV is a mucopolysaccharide disease k...
-
The Youngest Pair of Siblings With Mucopolysaccharidosis Type IVA to Receive Enzyme Replacement Therapy to Date: A C...Mucopolysaccharidosis type IVA (OMIM 253...