PERSONAL DE APOYO
MELITO Viviana Alicia
congresos y reuniones científicas
Título:
Analysis of the role of NR1I2 gene variants in Hepatic Porphyrias onset
Autor/es:
MARTÍNEZ YUCOVSKY, K.;; MOLTRASIO, I; WOO, E; SANTILLÁN, T; YUN, S; MELITO, VA; VARELA, L; PARERA, VE; BUZALEH, AM; ZUCCOLI, J
Lugar:
Mar del Plata
Reunión:
Congreso; Reunión Anual Sociedad Argentina de Investigación Clínica; 2023
Institución organizadora:
SAIC
Resumen:
Porphyrias are due to heme enzymes deficiencies: Porphobilinogen deaminase in Acute Intermittent Porphyria (AIP), and Uro decarboxylase in Porphyria Cutanea Tarda (PCT).Several factors, as therapeutic drugs, are needed for the onset ofthese hepatic diseases. NR1I2 gene encodes for PXR transporter;NM_022002.3:c.196C>T and NM_003889.4:c.-22-7659C>T variants affect the expression of many proteins like ABCB1 and CYP3A4. The aim was to evaluate the role of PXR SNVs in AIP andPCT triggering. Cohorts studied: Control, symptomatic AIP (S-AIP),asymptomatic AIP (L-AIP) and PCT. Individuals signed informedconsent. PCR-RFLP was used for genotyping. S-AIP allelic frequency for c.196C>T (0.13, p
