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

Sofia

Congreso; PORPHYRINS AND PORPHYRIAS 2022 (ICPP 2022); 2022

BackgroundAcute intermittent porphyria (AIP) is an inherited disease due to Porphobilinogen deaminase (PBG-D) deficiency. AIP model is a knockout mouse with targeted disruption of PBG-D that exhibits the typical biochemical/neurological characteristics of human AIP. Considering that aging is a significant risk factor for impaired tissue functions and chronic diseases, the aim was to evaluate alterations in heme metabolism, hepatic damage and oxidative parameters in a genetic AIP model throughout life.Materials and methodsThe study was performed in liver and brain using three groups (males and females) of young mice: Wild type (C57BL/6), T1 (PBG-D activity 55% reduced) and AIP (PBG-D activity 70% reduced). For evaluating the effect of age, T1 mice 12-15 months old were used.ResultsIn young mice, PBG-D activity in T1 and AIP was according to the model in liver being also reduced in brain (40-50%, p