Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity
| Autor: | Maliheh Barazandeh Tehrani, Aria Setoodeh, Roberto Giugliani, Gabriel Civallero, Mohammad Taghi Haghi Ashtiani, Koosha Minookherad, Sedigheh Shams |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty MPS IV A Keratan sulfate Ensaios enzimáticos Endocrinology Diabetes and Metabolism Mucopolysaccharidosis Mucopolysaccharidosis type IV Mucopolysaccharidosis Type IVA Glycosaminoglycan 03 medical and health sciences chemistry.chemical_compound Mucopolissacaridoses Internal medicine Morquio A Internal Medicine medicine chemistry.chemical_classification biology business.industry Sulfatase GALNS deficiency medicine.disease Enzyme assay 030104 developmental biology Enzyme Endocrinology chemistry biology.protein business Research Article |
| Zdroj: | Repositório Institucional da UFRGS Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS Journal of Diabetes and Metabolic Disorders |
| Popis: | Background: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The loss of GALNS activity leads to the impaired breakdown of glycosaminoglycans (GAGs) keratan sulfate and chondroitin- 6-sulfate. The accumulation of GAGs results in multiple organ damage. The accurate and early diagnosis of this disorder helps enhance the effectiveness of the treatment. The present study uses a pre-designed protocol for testing GALNS activity in the leukocytes of Iranian patients with MPS IV A and their parents and compares it with healthy controls. Methods: Patients with MPS IVA previously diagnosed through the measurement of enzyme activity or genetic analysis entered the study. Leukocytes were obtained from the heparinized blood of the participants. The GALNS activity was measured by a fluorometric method using 4-methylumbelliferyl-β-D-galactoside-6-sulfate (4MU-G6S) as the substrate and proper buffer solutions and calibrators. Results: The GALNS activity (nmol/17 h/mg protein) was reported as 0–7.4 in the MPSIV A patients, as 19.85–93.7 in their parents and as 38.4–164 in the healthy controls. Statistically significant differences were observed between the three groups in terms of enzyme activity. There were no significant differences in enzyme activity by age. The female subjects in both the patient and parents groups showed lower enzyme activity compared to the male subjects. Conclusion: The fluorometric method was validated for the measurement of GALNS activity in leukocyte samples and identifying Iranian patients with MPS IV A. |
| Databáze: | OpenAIRE |
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