Acute intermittent porphyria in argentina: An update

Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. In this pap...

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Autores principales:	Cerbino, G.N., Gerez, E.N., Varela, L.S., Melito, V.A., Parera, V.E., Batlle, A., Rossetti, M.V.
Formato:	JOUR
Materias:	acute intermittent porphyria adult aged Argentina Article clinical article controlled study electrophoresis exon family female founder effect frameshift mutation gene deletion heterozygote human intron male middle aged missense mutation mutational analysis nucleic acid base substitution Paraguay population prevalence reverse transcription polymerase chain reaction single nucleotide polymorphism splicing defect young adult clinical trial genetics mutation Porphyria, Acute Intermittent Adult Aged Family Female Humans Male Middle Aged Mutation Prevalence
Acceso en línea:	http://hdl.handle.net/20.500.12110/paper_23146133_v2015_n_p_Cerbino
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	todo:paper_23146133_v2015_n_p_Cerbino
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spelling	todo:paper_23146133_v2015_n_p_Cerbino2023-10-03T16:40:56Z Acute intermittent porphyria in argentina: An update Cerbino, G.N. Gerez, E.N. Varela, L.S. Melito, V.A. Parera, V.E. Batlle, A. Rossetti, M.V. acute intermittent porphyria adult aged Argentina Article clinical article controlled study electrophoresis exon family female founder effect frameshift mutation gene deletion heterozygote human intron male middle aged missense mutation mutational analysis nucleic acid base substitution Paraguay population prevalence reverse transcription polymerase chain reaction single nucleotide polymorphism splicing defect young adult clinical trial family genetics mutation Porphyria, Acute Intermittent Adult Aged Argentina Family Female Humans Male Middle Aged Mutation Porphyria, Acute Intermittent Prevalence Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. 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 Centro de Investigaciones sobre Porfirinas y Porfirias (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 was 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 foreign family from Paraguay is discussed. Moreover, it can be noted that 38 new families were found carrying the most frequent mutation in Argentina (p.G111R), increasing to 55.66% the prevalence of this genetic change in our population and adding further support to our previous hypothesis of a founder effect for this mutation in Argentina. Identification of patients with an overt AIP is 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. © 2015 Gabriela Nora Cerbino et al. Fil:Gerez, E.N. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Parera, V.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Batlle, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Rossetti, M.V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_23146133_v2015_n_p_Cerbino
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	acute intermittent porphyria adult aged Argentina Article clinical article controlled study electrophoresis exon family female founder effect frameshift mutation gene deletion heterozygote human intron male middle aged missense mutation mutational analysis nucleic acid base substitution Paraguay population prevalence reverse transcription polymerase chain reaction single nucleotide polymorphism splicing defect young adult clinical trial family genetics mutation Porphyria, Acute Intermittent Adult Aged Argentina Family Female Humans Male Middle Aged Mutation Porphyria, Acute Intermittent Prevalence
spellingShingle	acute intermittent porphyria adult aged Argentina Article clinical article controlled study electrophoresis exon family female founder effect frameshift mutation gene deletion heterozygote human intron male middle aged missense mutation mutational analysis nucleic acid base substitution Paraguay population prevalence reverse transcription polymerase chain reaction single nucleotide polymorphism splicing defect young adult clinical trial family genetics mutation Porphyria, Acute Intermittent Adult Aged Argentina Family Female Humans Male Middle Aged Mutation Porphyria, Acute Intermittent Prevalence Cerbino, G.N. Gerez, E.N. Varela, L.S. Melito, V.A. Parera, V.E. Batlle, A. Rossetti, M.V. Acute intermittent porphyria in argentina: An update
topic_facet	acute intermittent porphyria adult aged Argentina Article clinical article controlled study electrophoresis exon family female founder effect frameshift mutation gene deletion heterozygote human intron male middle aged missense mutation mutational analysis nucleic acid base substitution Paraguay population prevalence reverse transcription polymerase chain reaction single nucleotide polymorphism splicing defect young adult clinical trial family genetics mutation Porphyria, Acute Intermittent Adult Aged Argentina Family Female Humans Male Middle Aged Mutation Porphyria, Acute Intermittent Prevalence
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 a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. 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 Centro de Investigaciones sobre Porfirinas y Porfirias (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 was 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 foreign family from Paraguay is discussed. Moreover, it can be noted that 38 new families were found carrying the most frequent mutation in Argentina (p.G111R), increasing to 55.66% the prevalence of this genetic change in our population and adding further support to our previous hypothesis of a founder effect for this mutation in Argentina. Identification of patients with an overt AIP is 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. © 2015 Gabriela Nora Cerbino et al.
format	JOUR
author	Cerbino, G.N. Gerez, E.N. Varela, L.S. Melito, V.A. Parera, V.E. Batlle, A. Rossetti, M.V.
author_facet	Cerbino, G.N. Gerez, E.N. Varela, L.S. Melito, V.A. Parera, V.E. Batlle, A. Rossetti, M.V.
author_sort	Cerbino, G.N.
title	Acute intermittent porphyria in argentina: An update
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
url	http://hdl.handle.net/20.500.12110/paper_23146133_v2015_n_p_Cerbino
work_keys_str_mv	AT cerbinogn acuteintermittentporphyriainargentinaanupdate AT gerezen acuteintermittentporphyriainargentinaanupdate AT varelals acuteintermittentporphyriainargentinaanupdate AT melitova acuteintermittentporphyriainargentinaanupdate AT parerave acuteintermittentporphyriainargentinaanupdate AT batllea acuteintermittentporphyriainargentinaanupdate AT rossettimv acuteintermittentporphyriainargentinaanupdate
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Acute intermittent porphyria in argentina: An update

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