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FARAFARA Cure FA

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

Friedreich's ataxia, 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. This group used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. They 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.

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Jane Larkindale

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