CYP2D6 polymorphisms in patients with porphyrias

The cytochrome P-450 (CYP) isoenzymes, a superfamily of heme proteins which are the terminal oxidases of the mixed function oxidases system, metabolize more than 70% of all clinically approved drugs. The highly polymorphic CYP2D6 isoform metabolizes more than 25% of most common drugs, and the phenot...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Lavandera, Jimena Verónica, Parera, Victoria Estela, Batlle, Alcira María del Carmen, Buzaleh, Ana María
Publicado:	2006
Materias:	cytochrome P450 2D6 hemoprotein iron isoenzyme oxidoreductase porphyrin derivative adult aged allele Argentina article clinical feature controlled study cytochrome P2D6 gene disease association DNA polymorphism drug exposure drug metabolism enzyme activity enzyme metabolism enzyme regulation female gene genetic analysis genotype phenotype correlation heme synthesis human iron blood level major clinical study male metabolic disorder porphyria priority journal protein family protein function Adolescent Adult Alleles Child Cytochrome P-450 CYP2D6 Female Gene Frequency Genotype Humans Male Middle Aged Phenotype Polymorphism, Genetic Porphyrias
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10761551_v12_n9-10_p259_Lavandera http://hdl.handle.net/20.500.12110/paper_10761551_v12_n9-10_p259_Lavandera
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_10761551_v12_n9-10_p259_Lavandera
record_format	dspace
spelling	paper:paper_10761551_v12_n9-10_p259_Lavandera2023-06-08T16:05:19Z CYP2D6 polymorphisms in patients with porphyrias Lavandera, Jimena Verónica Parera, Victoria Estela Batlle, Alcira María del Carmen Buzaleh, Ana María cytochrome P450 2D6 hemoprotein iron isoenzyme oxidoreductase porphyrin derivative adult aged allele Argentina article clinical feature controlled study cytochrome P2D6 gene disease association DNA polymorphism drug exposure drug metabolism enzyme activity enzyme metabolism enzyme regulation female gene genetic analysis genotype phenotype correlation heme synthesis human iron blood level major clinical study male metabolic disorder porphyria priority journal protein family protein function Adolescent Adult Alleles Child Cytochrome P-450 CYP2D6 Female Gene Frequency Genotype Humans Male Middle Aged Phenotype Polymorphism, Genetic Porphyrias The cytochrome P-450 (CYP) isoenzymes, a superfamily of heme proteins which are the terminal oxidases of the mixed function oxidases system, metabolize more than 70% of all clinically approved drugs. The highly polymorphic CYP2D6 isoform metabolizes more than 25% of most common drugs, and the phenotypes of the 70-plus allelic variants range from compromised to excessive enzymatic activity. Porphyrias are a group of inherited or acquired metabolic disorders of heme biosynthesis, due to a specific decrease in the activity of one of the enzymes of the heme pathway. Clinical signs and symptoms of porphyrias are frequently associated with exposure to precipitating agents, including clinically approved drugs. CYP enzymes, including CYP2D6, participate in the metabolism of some porphyrinogenic drugs, leading to the deregulation of heme biosynthesis. Considering that some of the drugs not recommended for use in porphyric patients are metabolized by CYP2D6, the presence of CYP2D6 polymorphisms in porphyric patients would influence the triggering of the disease when these individuals receive a precipitating agent that is metabolized by CYP2D6. To investigate CYP2D6 polymorphisms in porphyric patients, healthy Argentinean volunteers, porphyric patients, and a group of individuals with high levels of iron were studied. Results indicated that the CYP2D63 and CYP2D64 alleles, in particular, would be linked to the onset of disease. Predictive genotyping for CYP2D6 in porphyric patients holds promise as a method to improve the clinical efficacy of drug therapy and to personalize drug administration for these patients. Fil:Lavandera, J.V. 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:Buzaleh, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2006 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10761551_v12_n9-10_p259_Lavandera http://hdl.handle.net/20.500.12110/paper_10761551_v12_n9-10_p259_Lavandera
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	cytochrome P450 2D6 hemoprotein iron isoenzyme oxidoreductase porphyrin derivative adult aged allele Argentina article clinical feature controlled study cytochrome P2D6 gene disease association DNA polymorphism drug exposure drug metabolism enzyme activity enzyme metabolism enzyme regulation female gene genetic analysis genotype phenotype correlation heme synthesis human iron blood level major clinical study male metabolic disorder porphyria priority journal protein family protein function Adolescent Adult Alleles Child Cytochrome P-450 CYP2D6 Female Gene Frequency Genotype Humans Male Middle Aged Phenotype Polymorphism, Genetic Porphyrias
spellingShingle	cytochrome P450 2D6 hemoprotein iron isoenzyme oxidoreductase porphyrin derivative adult aged allele Argentina article clinical feature controlled study cytochrome P2D6 gene disease association DNA polymorphism drug exposure drug metabolism enzyme activity enzyme metabolism enzyme regulation female gene genetic analysis genotype phenotype correlation heme synthesis human iron blood level major clinical study male metabolic disorder porphyria priority journal protein family protein function Adolescent Adult Alleles Child Cytochrome P-450 CYP2D6 Female Gene Frequency Genotype Humans Male Middle Aged Phenotype Polymorphism, Genetic Porphyrias Lavandera, Jimena Verónica Parera, Victoria Estela Batlle, Alcira María del Carmen Buzaleh, Ana María CYP2D6 polymorphisms in patients with porphyrias
topic_facet	cytochrome P450 2D6 hemoprotein iron isoenzyme oxidoreductase porphyrin derivative adult aged allele Argentina article clinical feature controlled study cytochrome P2D6 gene disease association DNA polymorphism drug exposure drug metabolism enzyme activity enzyme metabolism enzyme regulation female gene genetic analysis genotype phenotype correlation heme synthesis human iron blood level major clinical study male metabolic disorder porphyria priority journal protein family protein function Adolescent Adult Alleles Child Cytochrome P-450 CYP2D6 Female Gene Frequency Genotype Humans Male Middle Aged Phenotype Polymorphism, Genetic Porphyrias
description	The cytochrome P-450 (CYP) isoenzymes, a superfamily of heme proteins which are the terminal oxidases of the mixed function oxidases system, metabolize more than 70% of all clinically approved drugs. The highly polymorphic CYP2D6 isoform metabolizes more than 25% of most common drugs, and the phenotypes of the 70-plus allelic variants range from compromised to excessive enzymatic activity. Porphyrias are a group of inherited or acquired metabolic disorders of heme biosynthesis, due to a specific decrease in the activity of one of the enzymes of the heme pathway. Clinical signs and symptoms of porphyrias are frequently associated with exposure to precipitating agents, including clinically approved drugs. CYP enzymes, including CYP2D6, participate in the metabolism of some porphyrinogenic drugs, leading to the deregulation of heme biosynthesis. Considering that some of the drugs not recommended for use in porphyric patients are metabolized by CYP2D6, the presence of CYP2D6 polymorphisms in porphyric patients would influence the triggering of the disease when these individuals receive a precipitating agent that is metabolized by CYP2D6. To investigate CYP2D6 polymorphisms in porphyric patients, healthy Argentinean volunteers, porphyric patients, and a group of individuals with high levels of iron were studied. Results indicated that the CYP2D63 and CYP2D64 alleles, in particular, would be linked to the onset of disease. Predictive genotyping for CYP2D6 in porphyric patients holds promise as a method to improve the clinical efficacy of drug therapy and to personalize drug administration for these patients.
author	Lavandera, Jimena Verónica Parera, Victoria Estela Batlle, Alcira María del Carmen Buzaleh, Ana María
author_facet	Lavandera, Jimena Verónica Parera, Victoria Estela Batlle, Alcira María del Carmen Buzaleh, Ana María
author_sort	Lavandera, Jimena Verónica
title	CYP2D6 polymorphisms in patients with porphyrias
title_short	CYP2D6 polymorphisms in patients with porphyrias
title_full	CYP2D6 polymorphisms in patients with porphyrias
title_fullStr	CYP2D6 polymorphisms in patients with porphyrias
title_full_unstemmed	CYP2D6 polymorphisms in patients with porphyrias
title_sort	cyp2d6 polymorphisms in patients with porphyrias
publishDate	2006
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10761551_v12_n9-10_p259_Lavandera http://hdl.handle.net/20.500.12110/paper_10761551_v12_n9-10_p259_Lavandera
work_keys_str_mv	AT lavanderajimenaveronica cyp2d6polymorphismsinpatientswithporphyrias AT pareravictoriaestela cyp2d6polymorphismsinpatientswithporphyrias AT batllealciramariadelcarmen cyp2d6polymorphismsinpatientswithporphyrias AT buzalehanamaria cyp2d6polymorphismsinpatientswithporphyrias
_version_	1768543479487528960

CYP2D6 polymorphisms in patients with porphyrias

Ejemplares similares