Characterization of a genetic murine model of Acute Intermittent Porphyria. An over time study

MARTINEZ MARIA DEL CARMEN; ZUCCOLI, JOHANNA; RUSPINI, SILVINA; BUZALEH ANA MARIA

Virtual

Congreso; LXVI REUNIÓN ANUAL DE LA SOCIEDAD ARGENTINA DE INVESTIGACIÓN CLÍNICA (SAIC); 2021

Sociedad Argentina de Investigación Clínica

Acute intermittent porphyria (AIP) is an inherited disease due toPorphobilinogen deaminase (PBG-D) deficiency. Mouse models ofhuman Porphyrias are useful to investigate disease pathogenesisand to develop new therapies. AIP model is a knockout mouse withtargeted disruption of PBG-D that exhibits the typical biochemical/neurological characteristics of human AIP. The aim was to evaluateheme metabolism, hepatic damage and oxidative parametersin a genetic AIP model compared to wild type strain (C57BL/6). Thestudy was performed in liver and brain using three groups (malesand females): Wild type, T1 (PBG-D activity 55% reduced) and AIP(PBG- D activity 70% reduced. T1 and AIP PBG-D activity was accordingto the model in liver; in brain it was also reduced (40-50%,p