Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's ataxia.

ABSTRACT:

Objective

In Friedreich's ataxia (FRDA), the most affected tissues are not accessible to sampling and available transcriptomic findings originate from blood-derived cells and animal models. Herein, we aimed at dissecting for the first time the pathophysiology of FRDA by means of RNA-sequencing in an affected tissue sampled in vivo.

Methods

Skeletal muscle biopsies were collected from seven FRDA patients before and after treatment with recombinant human Erythropoietin (rhuEPO) within a clinical trial. Total RNA extraction, 3'-mRNA library preparation and sequencing were performed according to standard procedures. We tested for differential gene expression with DESeq2 and performed gene set enrichment analysis with respect to control subjects.

Results

FRDA transcriptome

SUBMITTER: Indelicato E 

PROVIDER: S-EPMC10281753 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature