Long non-coding RNAs (lncRNAs) play an important role in growth, development, and reproduction and undoubtedly contribute to the pathogenesis and progression of diseases. Emerging evidence suggests the involvement of lncRNAs as regulatory factors in pathological conditions, including some neurodegenerative diseases. Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) has a prominent prevalence in China. Because the role of lncRNAs in SCA3/MJD pathogenesis has not yet been investigated, we conducted a pilot study to investigate the expression profile of lncRNAs by high-throughput sequencing in 12 patients and 12 healthy individuals. The sequencing analysis detected 5,540 known and 2,759 novel lncRNAs. Six lncRNAs were confirmed to be differentially expressed in peripheral blood mononuclear cells between SCA3/MJD patients and healthy individuals and were further validated in cerebellar tissue. Based on these results, NONHSAT022144.2 and NONHSAT165686.1 may be involved in the pathogenesis of SCA3/MJD and may be potential biomarkers for SCA3/MJD. Together with NONHSAT022144.2 and NONHSAT165686.1, the other four novel lncRNAs increase our understanding of lncRNA expression profile.
Keywords: Machado–Joseph disease; Spinocerebellar Ataxia Type 3; biomarker; expression profile; long non-coding RNAs.