Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich’s ataxia patients

Friedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. Furthermore, we present the rationale, experimental methodology, and analytical procedures for dataset analysis. This dataset will facilitate the identification of miRNA signatures and provide new molecular explanation for pathological mechanisms occurring during the natural history of FRDA. Since miRNA levels change with disease progression and pharmacological interventions, miRNAs will contribute to the design of new therapeutic strategies and will improve clinical decisions. Design Type(s) disease state design • microRNA profiling by high throughput sequencing assay Measurement Type(s) microRNA profiling assay Technology Type(s) RNA sequencing Factor Type(s) diagnosis Sample Characteristic(s) Homo sapiens • blood plasma Machine-accessible metadata file describing the reported data (ISA-Tab format)