High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

Orphanet Journal of Rare Diseases
M Barreda-SánchezE Guillén-Navarro

Abstract

Acute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem biosynthesis. Manifest AIP (MAIP) is considered when carriers develop typical acute neurovisceral attacks with elevation of porphyrin precursors, while the absence of attacks is referred to as latent AIP (LAIP). Attacks are often triggered by drugs, endocrine factors, fasting or stress. Although AIP penetrance is traditionally considered to be around 10-20%, it has been estimated to be below 1% in general population studies and a higher figure has been found in specific AIP populations. Genetic susceptibility factors underlying penetrance are still unknown. Drug-metabolizing cytochrome P450 enzymes (CYP) are polymorphic haem-dependent proteins which play a role in haem demand, so they might modulate the occurrence of AIP attacks. Our aim was to determine the prevalence and penetrance of AIP in our population and analyse the main hepatic CYP genes to assess their association with acute attacks. For this, CYP2C9*2, *3; CYP2C19*2; CYP2D6*4, *5; CYP3A4*1B and CYP3A5*3 defective alleles were genotyped in fifty AIP carriers from the Region of Murcia, a Spanish population with a high...Continue Reading

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Citations

Jan 14, 2021·Arquivos de neuro-psiquiatria·Paulo Victor Sgobbi de SouzaAcary Souza Bulle Oliveira
Nov 4, 2020·Intractable & Rare Diseases Research·Liyan MaSongyun Zhang
Mar 1, 2021·Orphanet Journal of Rare Diseases·Juan Buendía-MartínezEncarna Guillén-Navarro
Mar 4, 2021·Arquivos de neuro-psiquiatria·Paulo Victor Sgobbi de SouzaAcary Souza Bulle Oliveira
Jul 4, 2020·Journal of Molecular Graphics & Modelling·Broto ChakrabartyGopalakrishnan Bulusu
Mar 27, 2021·Current Opinion in Gastroenterology·Bruce Wang

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Methods Mentioned

BETA
genotyping
Assay
PCR
column chromatography

Software Mentioned

7500

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