Acute Intermittent Porphyria in Argentina: An Update

Autores
Cerbino, Gabriela Nora; Gerez, Esther Noemi; Varela, Laura Sabina; Melito, Viviana Alicia; Parera, Victoria Estela; Batlle, Alcira Maria del C.; Rossetti, Maria Victoria
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in Hydroxymethylbilane synthase (HMBS) produces the hepatic disorder named Acute Intermittent Porphyria (AIP), the acute porphyria more frequent in Argentina. Identification of patients with an overt AIP is absolutely important because treatment depends on an accurate diagnosis but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour countries studied at molecular level at CIPYP. Thirty five different mutations were found of which 14 were described for the first time in our population. The most prevalent type of mutations were the missense mutations (43%) followed by splice defects (26%) and small deletions (20%). An odd case of a double heterozygous presentation of AIP in a foreing family from Paraguay is discussed. Moreover it can be noted that 38 new families carrying the frequent mutation in Argentine, p.G111R, increased to 55,66% the prevalence of this genetic change in our population adding further support to our previous hypothesis of a founder effect for this mutation in Argentina.
Fil: Cerbino, Gabriela Nora. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Gerez, Esther Noemi. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Varela, Laura Sabina. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Melito, Viviana Alicia. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
Materia
PORPHYRIA
ACUTE INTERMITTENT PORPHYRIA
MUTATION
HMBS
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:11336/7784
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Acute Intermittent Porphyria in Argentina: An UpdateCerbino, Gabriela NoraGerez, Esther NoemiVarela, Laura SabinaMelito, Viviana AliciaParera, Victoria EstelaBatlle, Alcira Maria del C.Rossetti, Maria VictoriaPORPHYRIAACUTE INTERMITTENT PORPHYRIAMUTATIONHMBShttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in Hydroxymethylbilane synthase (HMBS) produces the hepatic disorder named Acute Intermittent Porphyria (AIP), the acute porphyria more frequent in Argentina. Identification of patients with an overt AIP is absolutely important because treatment depends on an accurate diagnosis but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour countries studied at molecular level at CIPYP. Thirty five different mutations were found of which 14 were described for the first time in our population. The most prevalent type of mutations were the missense mutations (43%) followed by splice defects (26%) and small deletions (20%). An odd case of a double heterozygous presentation of AIP in a foreing family from Paraguay is discussed. Moreover it can be noted that 38 new families carrying the frequent mutation in Argentine, p.G111R, increased to 55,66% the prevalence of this genetic change in our population adding further support to our previous hypothesis of a founder effect for this mutation in Argentina.Fil: Cerbino, Gabriela Nora. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; ArgentinaFil: Gerez, Esther Noemi. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; ArgentinaFil: Varela, Laura Sabina. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; ArgentinaFil: Melito, Viviana Alicia. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; ArgentinaFil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; ArgentinaFil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; ArgentinaFil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; ArgentinaHindawi Publishing Corporation2015-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/7784Cerbino, Gabriela Nora; Gerez, Esther Noemi; Varela, Laura Sabina; Melito, Viviana Alicia; Parera, Victoria Estela; et al.; Acute Intermittent Porphyria in Argentina: An Update; Hindawi Publishing Corporation; Journal Of Biomedicine And Biotechnology; 2015; 4-2015; 1-71110-7243enginfo:eu-repo/semantics/altIdentifier/url/http://www.hindawi.com/journals/bmri/2015/946387/info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449928/info:eu-repo/semantics/altIdentifier/doi/10.1155/2015/946387info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:54:46Zoai:ri.conicet.gov.ar:11336/7784instacron: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:34982025-09-03 09:54:46.809CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Acute Intermittent Porphyria in Argentina: An Update
title Acute Intermittent Porphyria in Argentina: An Update
spellingShingle Acute Intermittent Porphyria in Argentina: An Update
Cerbino, Gabriela Nora
PORPHYRIA
ACUTE INTERMITTENT PORPHYRIA
MUTATION
HMBS
title_short Acute Intermittent Porphyria in Argentina: An Update
title_full Acute Intermittent Porphyria in Argentina: An Update
title_fullStr Acute Intermittent Porphyria in Argentina: An Update
title_full_unstemmed Acute Intermittent Porphyria in Argentina: An Update
title_sort Acute Intermittent Porphyria in Argentina: An Update
dc.creator.none.fl_str_mv Cerbino, Gabriela Nora
Gerez, Esther Noemi
Varela, Laura Sabina
Melito, Viviana Alicia
Parera, Victoria Estela
Batlle, Alcira Maria del C.
Rossetti, Maria Victoria
author Cerbino, Gabriela Nora
author_facet Cerbino, Gabriela Nora
Gerez, Esther Noemi
Varela, Laura Sabina
Melito, Viviana Alicia
Parera, Victoria Estela
Batlle, Alcira Maria del C.
Rossetti, Maria Victoria
author_role author
author2 Gerez, Esther Noemi
Varela, Laura Sabina
Melito, Viviana Alicia
Parera, Victoria Estela
Batlle, Alcira Maria del C.
Rossetti, Maria Victoria
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv PORPHYRIA
ACUTE INTERMITTENT PORPHYRIA
MUTATION
HMBS
topic PORPHYRIA
ACUTE INTERMITTENT PORPHYRIA
MUTATION
HMBS
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in Hydroxymethylbilane synthase (HMBS) produces the hepatic disorder named Acute Intermittent Porphyria (AIP), the acute porphyria more frequent in Argentina. Identification of patients with an overt AIP is absolutely important because treatment depends on an accurate diagnosis but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour countries studied at molecular level at CIPYP. Thirty five different mutations were found of which 14 were described for the first time in our population. The most prevalent type of mutations were the missense mutations (43%) followed by splice defects (26%) and small deletions (20%). An odd case of a double heterozygous presentation of AIP in a foreing family from Paraguay is discussed. Moreover it can be noted that 38 new families carrying the frequent mutation in Argentine, p.G111R, increased to 55,66% the prevalence of this genetic change in our population adding further support to our previous hypothesis of a founder effect for this mutation in Argentina.
Fil: Cerbino, Gabriela Nora. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Gerez, Esther Noemi. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Varela, Laura Sabina. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Melito, Viviana Alicia. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Cientificas y Tecnicas. Oficina de Coordinacion Administrativa Houssay. Centro de Invest. Sobre Porfirinas y Porfirias; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina
description Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in Hydroxymethylbilane synthase (HMBS) produces the hepatic disorder named Acute Intermittent Porphyria (AIP), the acute porphyria more frequent in Argentina. Identification of patients with an overt AIP is absolutely important because treatment depends on an accurate diagnosis but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour countries studied at molecular level at CIPYP. Thirty five different mutations were found of which 14 were described for the first time in our population. The most prevalent type of mutations were the missense mutations (43%) followed by splice defects (26%) and small deletions (20%). An odd case of a double heterozygous presentation of AIP in a foreing family from Paraguay is discussed. Moreover it can be noted that 38 new families carrying the frequent mutation in Argentine, p.G111R, increased to 55,66% the prevalence of this genetic change in our population adding further support to our previous hypothesis of a founder effect for this mutation in Argentina.
publishDate 2015
dc.date.none.fl_str_mv 2015-04
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/11336/7784
Cerbino, Gabriela Nora; Gerez, Esther Noemi; Varela, Laura Sabina; Melito, Viviana Alicia; Parera, Victoria Estela; et al.; Acute Intermittent Porphyria in Argentina: An Update; Hindawi Publishing Corporation; Journal Of Biomedicine And Biotechnology; 2015; 4-2015; 1-7
1110-7243
url http://hdl.handle.net/11336/7784
identifier_str_mv Cerbino, Gabriela Nora; Gerez, Esther Noemi; Varela, Laura Sabina; Melito, Viviana Alicia; Parera, Victoria Estela; et al.; Acute Intermittent Porphyria in Argentina: An Update; Hindawi Publishing Corporation; Journal Of Biomedicine And Biotechnology; 2015; 4-2015; 1-7
1110-7243
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.hindawi.com/journals/bmri/2015/946387/
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449928/
info:eu-repo/semantics/altIdentifier/doi/10.1155/2015/946387
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
application/pdf
dc.publisher.none.fl_str_mv Hindawi Publishing Corporation
publisher.none.fl_str_mv Hindawi Publishing Corporation
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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