Epigenetic therapy for Friedreich ataxia.

ABSTRACT: We set out to investigate whether a histone deacetylase inhibitor (HDACi) would be effective in an in vitro model for the neurodegenerative disease Friedreich ataxia (FRDA) and to evaluate safety and surrogate markers of efficacy in a phase I clinical trial in patients. In the neuronal cell model, HDACi 109/RG2833 increases FXN mRNA levels and frataxin protein, with concomitant changes in the epigenetic state of the gene. Chromatin signatures indicate that histone H3 lysine 9 is a key residue for gene silencing through methylation and reactivation through acetylation, mediated by the HDACi. Drug treatment in FRDA patients demonstrated increased FXN mRNA and H3 lysine 9 acetylation in peripheral blood mononuclear cells. No safety issues were encountered. We used a human FRDA neuronal cell m

ORGANISM(S): Homo sapiens

SUBMITTER: Kristopher Nazor 

PROVIDER: E-GEOD-65399 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress