Acute Intermittent Porphyria: involvement of ABCG2 transporter variants

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

Mar del Plata

Congreso; CONGRESO DE BIOCIENCIAS 2022; 2022

Sociedad Argentina de Investigación Clínica

Acute Intermittent Porphyria (AIP) is a metabolic disease due to an inherited Porphobilinogen deaminase (PBG-D) deficiency. Enzyme activity reduction is not enough for crisis onset that is precipitated by several factors, including therapeutic drugs. Genetic variants affect ABCG2 transporter expression, altering drugs and heme efflux. NM_004827.3:c.34G>A and NM_004827.3:c.421C>A SNV´s are present at a high frequency. The aim was to evaluate the role of 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 informed consent. PCR-RFLP was performed to genotype c.421C>A variant and direct sequencing for c.34G>A. No significant differences of A allele frequency in either SNVs (c.421C>A and c.34G>A) were found and 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