Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI

Autores
Franco, Paula Gabriela; Adamo, Ana María; Mathieu, Patricia Andrea; Perez, Maria Julia; Setton, Clara Patricia; Silvestroff, Lucas
Año de publicación
2017
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo devastating and irreversible skeletal alterations andmultisystemic failure as from early childhood due to reduced Arylsulfatse B(ARSB) enzyme activity.Reaching a final diagnosis is not always a short cut path, but rather a yearslongbattle against uncertainty and unnecessary medical interventions. Ouraim is to contribute from the bench table with different approaches that couldserve as alternatives to pre-existing assays for screening and diagnosing MPSVI and other LSD.The present work is based on our research article authored by Franco etal.1 where we studied the effect of blood-derived hemoglobin, and other bloodcomponents, on the fluorescence of 4-Methylumbelliferone when measuringARSB enzyme activity from dried blood spot (DBS) samples.Our experience indicates that to date there are plenty of differentapproaches for measuring ARSB enzyme activity, although the sample typerequired or the assay in itself often make them more adaptable for either highthroughput screening or small scale diagnostics.As a whole, the fluorometric determinations seem to be the mostaccessible to low budget laboratories with equally valuable performancesas a sophisticated mass spectrometry analysis for this disease. Furthermore,the DBS serves as an attractive sample type for screening the disease in largepopulations.
Fil: Franco, Paula Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Adamo, Ana María. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Mathieu, Patricia Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Perez, Maria Julia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Setton, Clara Patricia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Silvestroff, Lucas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Materia
ARYLSULFATASE B
NEWBORN SCREENING
MUCOPOLYSACCHARIDOSIS VI
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/47428
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/47428
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repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VIFranco, Paula GabrielaAdamo, Ana MaríaMathieu, Patricia AndreaPerez, Maria JuliaSetton, Clara PatriciaSilvestroff, LucasARYLSULFATASE BNEWBORN SCREENINGMUCOPOLYSACCHARIDOSIS VIhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo devastating and irreversible skeletal alterations andmultisystemic failure as from early childhood due to reduced Arylsulfatse B(ARSB) enzyme activity.Reaching a final diagnosis is not always a short cut path, but rather a yearslongbattle against uncertainty and unnecessary medical interventions. Ouraim is to contribute from the bench table with different approaches that couldserve as alternatives to pre-existing assays for screening and diagnosing MPSVI and other LSD.The present work is based on our research article authored by Franco etal.1 where we studied the effect of blood-derived hemoglobin, and other bloodcomponents, on the fluorescence of 4-Methylumbelliferone when measuringARSB enzyme activity from dried blood spot (DBS) samples.Our experience indicates that to date there are plenty of differentapproaches for measuring ARSB enzyme activity, although the sample typerequired or the assay in itself often make them more adaptable for either highthroughput screening or small scale diagnostics.As a whole, the fluorometric determinations seem to be the mostaccessible to low budget laboratories with equally valuable performancesas a sophisticated mass spectrometry analysis for this disease. Furthermore,the DBS serves as an attractive sample type for screening the disease in largepopulations.Fil: Franco, Paula Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Adamo, Ana María. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Mathieu, Patricia Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Perez, Maria Julia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Setton, Clara Patricia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Silvestroff, Lucas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaSciaccess2017-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/47428Franco, Paula Gabriela; Adamo, Ana María; Mathieu, Patricia Andrea; Perez, Maria Julia; Setton, Clara Patricia; et al.; Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI; Sciaccess; Journal of Rare Diseases Research & Treatment; 2; 1; 1-2017; 56-612572-9411CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.rarediseasesjournal.com/articles/update-on-the-fluorometric-measurement-of-enzymatic-activities-for-lysosomal-storage-disorder-detection-the%20example-of-mps-VI-raredis-1-1081.phpinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:39:25Zoai:ri.conicet.gov.ar:11336/47428instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:39:25.977CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI
title Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI
spellingShingle Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI
Franco, Paula Gabriela
ARYLSULFATASE B
NEWBORN SCREENING
MUCOPOLYSACCHARIDOSIS VI
title_short Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI
title_full Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI
title_fullStr Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI
title_full_unstemmed Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI
title_sort Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI
dc.creator.none.fl_str_mv Franco, Paula Gabriela
Adamo, Ana María
Mathieu, Patricia Andrea
Perez, Maria Julia
Setton, Clara Patricia
Silvestroff, Lucas
author Franco, Paula Gabriela
author_facet Franco, Paula Gabriela
Adamo, Ana María
Mathieu, Patricia Andrea
Perez, Maria Julia
Setton, Clara Patricia
Silvestroff, Lucas
author_role author
author2 Adamo, Ana María
Mathieu, Patricia Andrea
Perez, Maria Julia
Setton, Clara Patricia
Silvestroff, Lucas
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv ARYLSULFATASE B
NEWBORN SCREENING
MUCOPOLYSACCHARIDOSIS VI
topic ARYLSULFATASE B
NEWBORN SCREENING
MUCOPOLYSACCHARIDOSIS VI
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo devastating and irreversible skeletal alterations andmultisystemic failure as from early childhood due to reduced Arylsulfatse B(ARSB) enzyme activity.Reaching a final diagnosis is not always a short cut path, but rather a yearslongbattle against uncertainty and unnecessary medical interventions. Ouraim is to contribute from the bench table with different approaches that couldserve as alternatives to pre-existing assays for screening and diagnosing MPSVI and other LSD.The present work is based on our research article authored by Franco etal.1 where we studied the effect of blood-derived hemoglobin, and other bloodcomponents, on the fluorescence of 4-Methylumbelliferone when measuringARSB enzyme activity from dried blood spot (DBS) samples.Our experience indicates that to date there are plenty of differentapproaches for measuring ARSB enzyme activity, although the sample typerequired or the assay in itself often make them more adaptable for either highthroughput screening or small scale diagnostics.As a whole, the fluorometric determinations seem to be the mostaccessible to low budget laboratories with equally valuable performancesas a sophisticated mass spectrometry analysis for this disease. Furthermore,the DBS serves as an attractive sample type for screening the disease in largepopulations.
Fil: Franco, Paula Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Adamo, Ana María. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Mathieu, Patricia Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Perez, Maria Julia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Setton, Clara Patricia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
Fil: Silvestroff, Lucas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentina
description Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo devastating and irreversible skeletal alterations andmultisystemic failure as from early childhood due to reduced Arylsulfatse B(ARSB) enzyme activity.Reaching a final diagnosis is not always a short cut path, but rather a yearslongbattle against uncertainty and unnecessary medical interventions. Ouraim is to contribute from the bench table with different approaches that couldserve as alternatives to pre-existing assays for screening and diagnosing MPSVI and other LSD.The present work is based on our research article authored by Franco etal.1 where we studied the effect of blood-derived hemoglobin, and other bloodcomponents, on the fluorescence of 4-Methylumbelliferone when measuringARSB enzyme activity from dried blood spot (DBS) samples.Our experience indicates that to date there are plenty of differentapproaches for measuring ARSB enzyme activity, although the sample typerequired or the assay in itself often make them more adaptable for either highthroughput screening or small scale diagnostics.As a whole, the fluorometric determinations seem to be the mostaccessible to low budget laboratories with equally valuable performancesas a sophisticated mass spectrometry analysis for this disease. Furthermore,the DBS serves as an attractive sample type for screening the disease in largepopulations.
publishDate 2017
dc.date.none.fl_str_mv 2017-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/47428
Franco, Paula Gabriela; Adamo, Ana María; Mathieu, Patricia Andrea; Perez, Maria Julia; Setton, Clara Patricia; et al.; Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI; Sciaccess; Journal of Rare Diseases Research & Treatment; 2; 1; 1-2017; 56-61
2572-9411
CONICET Digital
CONICET
url http://hdl.handle.net/11336/47428
identifier_str_mv Franco, Paula Gabriela; Adamo, Ana María; Mathieu, Patricia Andrea; Perez, Maria Julia; Setton, Clara Patricia; et al.; Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI; Sciaccess; Journal of Rare Diseases Research & Treatment; 2; 1; 1-2017; 56-61
2572-9411
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.rarediseasesjournal.com/articles/update-on-the-fluorometric-measurement-of-enzymatic-activities-for-lysosomal-storage-disorder-detection-the%20example-of-mps-VI-raredis-1-1081.php
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Sciaccess
publisher.none.fl_str_mv Sciaccess
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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