Acute Intermittent Porphyria: Involvement of Abcg2 transporter variants.

SANTILLAN, TOMÁS; YUN, SEBASTIÁN; ZUCCOLI, JOHANNA; MELITO, VIVIANA; VARELA LAURA; PARERA VICTORIA; BUZALEH, ANA MARIA

Mar del Plata

Congreso; LXX Congreso de la Asociación Argentina de Investigación ClínicaLXX; 2022

Sociedad Argentina de Investigación Clinica

Acute Intermittent Porphyria (AIP) is a metabolic disease due to aninherited Porphobilinogen deaminase (PBG-D) deficiency. Enzymeactivity reduction is not enough for crisis onset that is precipitatedby several factors, including therapeutic drugs. Genetic variantsaffect ABCG2 transporter expression, altering drugs and heme efflux.NM_004827.3:c.34G>A and NM_004827.3:c.421C>A SNV´sare present at a high frequency. The aim was to evaluate the roleof ABCG2 variants in AIP triggering. Three cohorts were included:Control (non porphyric) (N=40) and AIP patients carrying PBGD mutation:symptomatic at diagnosis (S-AIP) (N=20) or without manifestations(latent, L-AIP) (N=20). All subjects have given their informedconsent. PCR-RFLP was performed to genotype c.421C>A variantand direct sequencing for c.34G>A. No significant differences of Aallele frequency in either SNVs (c.421C>A and c.34G>A) were foundand neither for the genotypic frequency of c.421C>A. However,c.34G>A genotypic frequencies differ in control (GG:60%; GA: 40%;AA:0%) respect to S-AIP (GG:72%, GA:22%, AA:6%, p