Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients

Autores
Martinez, María del Carmen; Cerbino, Gabriela Nora; Granata, Bárbara Xoana; Batlle, Alcira Maria del C.; Parera, Victoria Estela; Rossetti, Maria Victoria
Año de publicación
2019
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background: Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS generation by autooxidation of 5-aminolevulinic acid accumulated in liver and brain; (b) liver heme deficiency and in neural tissues that generate an oxidative status, a component of the neurodegenerative process. Methods: We review results obtained from Acute Intermittent Porphyria (AIP) and Variegate Porphyria (VP) families studied at clinical, biochemical, and molecular level at the CIPYP in Argentina. The relationship between the porphyric attack and oxidative stress was also evaluated in AHP patients and controls, to identify a marker of neurological dysfunction. Results: We studied 116 AIP families and 30 VP families, 609 and 132 individuals, respectively. Genotype/phenotype relation was studied. Oxidative stress parameters and plasma homocysteine levels were measured in 20 healthy volunteers, 22 AIP and 12 VP individuals. Conclusion: No significant difference in oxidative stress parameters and homocysteine levels between the analyzed groups were found.
Fil: Martinez, María del Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
Fil: Cerbino, Gabriela Nora. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Materia
ACUTE HEPATIC PORPHYRIAS
ACUTE INTERMITTENT PORPHYRIA
HEME METABOLISM
OXIDATIVE STRESS
VARIEGATE PORPHYRIA
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/131027
Acceder
id CONICETDig_ee0c9cbb5f52c376a155ed44cd432762
oai_identifier_str oai:ri.conicet.gov.ar:11336/131027
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patientsMartinez, María del CarmenCerbino, Gabriela NoraGranata, Bárbara XoanaBatlle, Alcira Maria del C.Parera, Victoria EstelaRossetti, Maria VictoriaACUTE HEPATIC PORPHYRIASACUTE INTERMITTENT PORPHYRIAHEME METABOLISMOXIDATIVE STRESSVARIEGATE PORPHYRIAhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Background: Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS generation by autooxidation of 5-aminolevulinic acid accumulated in liver and brain; (b) liver heme deficiency and in neural tissues that generate an oxidative status, a component of the neurodegenerative process. Methods: We review results obtained from Acute Intermittent Porphyria (AIP) and Variegate Porphyria (VP) families studied at clinical, biochemical, and molecular level at the CIPYP in Argentina. The relationship between the porphyric attack and oxidative stress was also evaluated in AHP patients and controls, to identify a marker of neurological dysfunction. Results: We studied 116 AIP families and 30 VP families, 609 and 132 individuals, respectively. Genotype/phenotype relation was studied. Oxidative stress parameters and plasma homocysteine levels were measured in 20 healthy volunteers, 22 AIP and 12 VP individuals. Conclusion: No significant difference in oxidative stress parameters and homocysteine levels between the analyzed groups were found.Fil: Martinez, María del Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; ArgentinaFil: Cerbino, Gabriela Nora. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaJohn Wiley & Sons Inc2019-06info: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/11336/131027Martinez, María del Carmen; Cerbino, Gabriela Nora; Granata, Bárbara Xoana; Batlle, Alcira Maria del C.; Parera, Victoria Estela; et al.; Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients; John Wiley & Sons Inc; Molecular Genetics & Genomic Medicine; 6-2019; 1-72324-9269CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.1059info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1059info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-10T13:02:20Zoai:ri.conicet.gov.ar:11336/131027instacron: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:34982025-09-10 13:02:20.988CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
title Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
spellingShingle Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
Martinez, María del Carmen
ACUTE HEPATIC PORPHYRIAS
ACUTE INTERMITTENT PORPHYRIA
HEME METABOLISM
OXIDATIVE STRESS
VARIEGATE PORPHYRIA
title_short Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
title_full Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
title_fullStr Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
title_full_unstemmed Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
title_sort Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients
dc.creator.none.fl_str_mv Martinez, María del Carmen
Cerbino, Gabriela Nora
Granata, Bárbara Xoana
Batlle, Alcira Maria del C.
Parera, Victoria Estela
Rossetti, Maria Victoria
author Martinez, María del Carmen
author_facet Martinez, María del Carmen
Cerbino, Gabriela Nora
Granata, Bárbara Xoana
Batlle, Alcira Maria del C.
Parera, Victoria Estela
Rossetti, Maria Victoria
author_role author
author2 Cerbino, Gabriela Nora
Granata, Bárbara Xoana
Batlle, Alcira Maria del C.
Parera, Victoria Estela
Rossetti, Maria Victoria
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv ACUTE HEPATIC PORPHYRIAS
ACUTE INTERMITTENT PORPHYRIA
HEME METABOLISM
OXIDATIVE STRESS
VARIEGATE PORPHYRIA
topic ACUTE HEPATIC PORPHYRIAS
ACUTE INTERMITTENT PORPHYRIA
HEME METABOLISM
OXIDATIVE STRESS
VARIEGATE PORPHYRIA
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background: Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS generation by autooxidation of 5-aminolevulinic acid accumulated in liver and brain; (b) liver heme deficiency and in neural tissues that generate an oxidative status, a component of the neurodegenerative process. Methods: We review results obtained from Acute Intermittent Porphyria (AIP) and Variegate Porphyria (VP) families studied at clinical, biochemical, and molecular level at the CIPYP in Argentina. The relationship between the porphyric attack and oxidative stress was also evaluated in AHP patients and controls, to identify a marker of neurological dysfunction. Results: We studied 116 AIP families and 30 VP families, 609 and 132 individuals, respectively. Genotype/phenotype relation was studied. Oxidative stress parameters and plasma homocysteine levels were measured in 20 healthy volunteers, 22 AIP and 12 VP individuals. Conclusion: No significant difference in oxidative stress parameters and homocysteine levels between the analyzed groups were found.
Fil: Martinez, María del Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
Fil: Cerbino, Gabriela Nora. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
description Background: Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS generation by autooxidation of 5-aminolevulinic acid accumulated in liver and brain; (b) liver heme deficiency and in neural tissues that generate an oxidative status, a component of the neurodegenerative process. Methods: We review results obtained from Acute Intermittent Porphyria (AIP) and Variegate Porphyria (VP) families studied at clinical, biochemical, and molecular level at the CIPYP in Argentina. The relationship between the porphyric attack and oxidative stress was also evaluated in AHP patients and controls, to identify a marker of neurological dysfunction. Results: We studied 116 AIP families and 30 VP families, 609 and 132 individuals, respectively. Genotype/phenotype relation was studied. Oxidative stress parameters and plasma homocysteine levels were measured in 20 healthy volunteers, 22 AIP and 12 VP individuals. Conclusion: No significant difference in oxidative stress parameters and homocysteine levels between the analyzed groups were found.
publishDate 2019
dc.date.none.fl_str_mv 2019-06
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/11336/131027
Martinez, María del Carmen; Cerbino, Gabriela Nora; Granata, Bárbara Xoana; Batlle, Alcira Maria del C.; Parera, Victoria Estela; et al.; Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients; John Wiley & Sons Inc; Molecular Genetics & Genomic Medicine; 6-2019; 1-7
2324-9269
CONICET Digital
CONICET
url http://hdl.handle.net/11336/131027
identifier_str_mv Martinez, María del Carmen; Cerbino, Gabriela Nora; Granata, Bárbara Xoana; Batlle, Alcira Maria del C.; Parera, Victoria Estela; et al.; Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients; John Wiley & Sons Inc; Molecular Genetics & Genomic Medicine; 6-2019; 1-7
2324-9269
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1002/mgg3.1059
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/mgg3.1059
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons Inc
publisher.none.fl_str_mv John Wiley & Sons Inc
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
_version_ 1842980010521001984
score 12.993085

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