Gabriela Vilema Enriquez
My work focuses on understanding the epigenetic repression of the frataxin gene to try to restore its expression in Friedreich’s ataxia (FRDA). FRDA is the most common inherited recessive ataxia, caused by a GAA triplet repeat expansion in intron 1 of the frataxin-coding gene (FXN). The presence of this expansion leads to partial transcriptional silencing of FXN, resulting in expression of structurally and functionally normal frataxin (FXN), but at lower levels compared to the normal. It has been shown that the expanded GAA repeats induce a repressive heterochromatin environment at the FXN locus. Therefore, my work consists of screening small molecules that can potentially relief this epigenetic repression, in order to find candidates that can restore FXN expression. So far, I have screened the well-characterized epigenetic probes collection from the Structural Genomics Consortium (SGC), and I have identified a new promising target. I am currently following up on my initial findings with the aim of establishing novel therapeutic approaches for this fatal disease.
I graduated from the Army Forces University in Quito, Ecuador, where I obtained my bachelor’s degree as a Biotechnology Engineer. After completing a 2 year-research project at the Biomedical Center of the Central University of Ecuador, I was awarded a scholarship from the Ecuadorian government through SENESCYT, to go to Pierre and Marie Curie University in Paris. There, I completed a Master’s programme in Cellular and Molecular Biology. During the last year of the programme, I worked at the laboratory of Development and Plasticity of Neural Networks studying the role of the Fragile X Mental Retardation Protein in the subventricular zone of adult mice. Thereafter, I returned to Ecuador to work culturing human cancer cell lines at the Nanomedicine and Nanobiology laboratory of the Army Forces University. In October 2015, I was awarded a second scholarship from SENESCYT, to enrol as a DPhil student in Professor Wade-Martins' group at the Department of Physiology, Anatomy and Genetics, University of Oxford. I finished my DPhil in 2019. I am currently working as a Postdoctoral Research Scientist fully funded by LifeArc.
Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells.
Vilema-Enríquez G. et al, (2020), J Biol Chem, 295, 17973 - 17985
Molecular and Cellular Effects of Hydrogen Peroxide on Human Lung Cancer Cells:Potential Therapeutic Implications
Vilema-Enríquez G. et al, (2016), Oxidative Medicine and Cellular Longevity, 2016, 1 - 12