Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/194807 |
Resumo: | 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. |
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Shams, SedighehBarazandeh-Tehrani, MalihehCivallero, Gabriel Eduardo SantiagoMinookherad, KooshaGiugliani, RobertoSetoodeh, AriaHaghi-Ashtiani, Mohammad Taghi2019-05-31T02:45:39Z20172251-6581http://hdl.handle.net/10183/194807001089632Background: 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.application/pdfengJournal of diabetes & metabolic disorders. [Berlin]. vol. 16, no. 1 (2017), 37, 5 f.MucopolissacaridosesEnsaios enzimáticosMPS IV AMucopolysaccharidosisMorquio AEnzyme assayGALNS deficiencyDiagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activityEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001089632.pdf.txt001089632.pdf.txtExtracted Texttext/plain27689http://www.lume.ufrgs.br/bitstream/10183/194807/2/001089632.pdf.txtfd56c6915f4ae4aa87a04e5598608fa6MD52ORIGINAL001089632.pdfTexto completo (inglês)application/pdf319184http://www.lume.ufrgs.br/bitstream/10183/194807/1/001089632.pdf0339100961fa2388f14ffd39deee7a04MD5110183/1948072019-06-01 02:39:21.013014oai:www.lume.ufrgs.br:10183/194807Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2019-06-01T05:39:21Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity |
title |
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity |
spellingShingle |
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity Shams, Sedigheh Mucopolissacaridoses Ensaios enzimáticos MPS IV A Mucopolysaccharidosis Morquio A Enzyme assay GALNS deficiency |
title_short |
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity |
title_full |
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity |
title_fullStr |
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity |
title_full_unstemmed |
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity |
title_sort |
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity |
author |
Shams, Sedigheh |
author_facet |
Shams, Sedigheh Barazandeh-Tehrani, Maliheh Civallero, Gabriel Eduardo Santiago Minookherad, Koosha Giugliani, Roberto Setoodeh, Aria Haghi-Ashtiani, Mohammad Taghi |
author_role |
author |
author2 |
Barazandeh-Tehrani, Maliheh Civallero, Gabriel Eduardo Santiago Minookherad, Koosha Giugliani, Roberto Setoodeh, Aria Haghi-Ashtiani, Mohammad Taghi |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Shams, Sedigheh Barazandeh-Tehrani, Maliheh Civallero, Gabriel Eduardo Santiago Minookherad, Koosha Giugliani, Roberto Setoodeh, Aria Haghi-Ashtiani, Mohammad Taghi |
dc.subject.por.fl_str_mv |
Mucopolissacaridoses Ensaios enzimáticos |
topic |
Mucopolissacaridoses Ensaios enzimáticos MPS IV A Mucopolysaccharidosis Morquio A Enzyme assay GALNS deficiency |
dc.subject.eng.fl_str_mv |
MPS IV A Mucopolysaccharidosis Morquio A Enzyme assay GALNS deficiency |
description |
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. |
publishDate |
2017 |
dc.date.issued.fl_str_mv |
2017 |
dc.date.accessioned.fl_str_mv |
2019-05-31T02:45:39Z |
dc.type.driver.fl_str_mv |
Estrangeiro info:eu-repo/semantics/article |
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info:eu-repo/semantics/publishedVersion |
format |
article |
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publishedVersion |
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http://hdl.handle.net/10183/194807 |
dc.identifier.issn.pt_BR.fl_str_mv |
2251-6581 |
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001089632 |
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http://hdl.handle.net/10183/194807 |
dc.language.iso.fl_str_mv |
eng |
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eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Journal of diabetes & metabolic disorders. [Berlin]. vol. 16, no. 1 (2017), 37, 5 f. |
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openAccess |
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