Cerebellar IncRNA Expression Profile Analysis of SCA3/MJD Mice

摘要

Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, externalophthalmoplegia, dysphagia, and distal muscle atrophy. It is caused by the abnormal expansion of CAG repeats in a coding region of ATXN3. However, by focusing on the ATXN3 itself cannot hilly explain the heterogeneous clinical features of SCA3/ MJD. With the discovery of the increasing number of long noncoding RNAs (IncRNAs) that are believed to be involved in spinocerebellar ataxia type 8 (SCA8) and Huntington disease (HD), we wonder whether the IncRNAs are differentially expressed in the SCA3/MJD patients compared to the nonpatients. As the first step, we used IncRNA-Seq to investigate differential expression of the IncRNAs in the SCA3/MJD mice. Two known IncRNAs, n297609 and n297477, and a novel IncRNA TCONS_00072962 have been identified in SCA3/MJD mice with abnormal expression. The first discovery of the novel IncRNA TCONS_00072962 enriched the IncRNA expression profile in the SCA3/MJD mouse model.