CHARACTERIZATION OF A GENETIC MURINE MODEL OF ACUTE INTERMITTENT PORPHYRIA. AN OVER TIME STUDY

MARÍA DEL CARMEN MARTINEZ; JOHANNA ROMINA ZUCCOLI,; SILVINA FERNANDA RUSPINI; ANA MARÍA BUZALEH

Buenos Aires

Congreso; REUNIÓN DE SOCIEDADES DE BIOCIENCIAS 2021; 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 evaluate heme 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 according to the model in liver; in brain it was also reduced (40-50%,p