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Identification of a potential exosomal biomarker in spinocerebellar ataxia Type 3/Machado-Joseph disease.

Aim: To identify spinocerebellar ataxia Type 3 (SCA3)-related exosomal biomarkers and the underlying mechanisms. Materials & methods: Exosomal RNAs from plasma and cerebrospinal fluid (CSF) were extracted from 24 SCA3 patients and 22 controls, respectively. Small RNA sequencing and quantitative PCR verification were performed. Gene ontology annotation and Kyoto Encyclopedia of Genes and Genomes pathway analyses of the results were carried out. Results: One novel miRNA is notably downregulated in plasma-derived exosomes, while upregulated in CSF-derived exosomes of SCA3 patients. Besides, it is successively upregulated in CSF-derived exosomes from Type 1, Type 2 and Type 3 groups. The downstream target genes were enriched in protein processing in endoplasmic reticulum and axon guidance. Conclusion: One exosomal biomarker was identified in SCA3, and this is the first time to report an exosomal miRNA as a biomarker in SCA3 internationally.