PROGETTO AUTOFINANZIATO "BASI MOLECOLARI DELLA ANEMIA SIDEROBLASTICA CONGENITA" (DSB.AD006.322)

Thematic area

Biomedical sciences

Project area

Structure responsible for the research project

Institute of biomembrane and bioenergetics (IBIOM)

Project manager

SERGIO GIANNATTASIO
Phone number: 080/55929818
Email: s.giannattasio@ibiom.cnr.it

Abstract

During the SIR2015 project we realize a model to study the congenital sideroblastic anemia(CSA) caused by mutation in the gene of SLC25A38.
We used P strain to test its phenotype and biochemical parameters. In order to assess a preclinical in vitro characterization for the treatment of CSA, we examined several chemical compounds and their effects on the strain created. With PLP we found the increase in PPIX and Hemin content a significant reduction in ROS content and finally an increase in basal and maximum respiration.
In collaboration with Dott. Iolascon of Ceinge Naples we will we examine several chemical compounds and their effects on the patients cells with CSA caused by mutation in the gene SLC25A38

Start date of activity

14/04/2021

Keywords

slc25a38, sideroblastic anemia, mitochondrial carrier

Last update: 06/07/2025