Design and validation of cell-based potency assays for frataxin supplementation treatments.

ABSTRACT: Friedreich's ataxia (FRDA) is a multisystem, autosomal recessive disorder caused by mutations in the frataxin (FXN) gene. As FRDA is considered an FXN deficiency disorder, numerous therapeutic approaches in development or clinical trials aim to supplement FXN or restore endogenous FXN expression. These include gene therapy, protein supplementation, genome editing or upregulation of FXN transcription. To evaluate efficacy of these therapies, potency assays capable of quantitative determination of FXN biological activity are needed. Herein, we evaluate the suitability of mouse embryonic fibroblasts derived from Fxn G127V knockin mice (MUT MEFs) as a candidate for cell-based potency assays. We demonstrate that these cells, when immortalized, continue to express minute amo

SUBMITTER: Mukherjee S 

PROVIDER: S-EPMC11735916 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature