Analysis on circular RNAs potentially related to spinocerebellar ataxia type 31.

2016 Fiscal Year Final Research Report

• Project/Area Number: 15H06181
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Pathological medical chemistry
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: Sato Nozomu 東京医科歯科大学, 大学院医歯学総合研究科, 助教 (30754551)
• Project Period (FY): 2015-08-28 – 2017-03-31
• Keywords: 環状RNA / Non-coding RNA / 神経変性疾患 / 脊髄小脳失調症31型 / Alu / microsatellite

Outline of Final Research Achievements

Circular RNAs (circRNAs) are a type of non-coding RNAs whose functions are yet to be unveiled. Intronic Alu sequences have been shown to be important for the systhesis of circRNAs. We aimed to clarify the effect of microsatellite expansions associated with Alu, which sometimes result in neurodegenerative disorders, on the synthesis and metabolism of circRNAs. The mutation responsible for spinocerebellar ataxia type 31 (SCA31) is an example of such microsatellite expansions, and we tried to identify the effect of the SCA31 mutation on potential circRNAs orginating from BEAN1 and TK2, the genes harboring the SCA31 mutation. We conducted RT-PCR on brain specimens of SCA31 autopsy samples and of mutant human BEAN1 transgenic mice in various conditions, but we could not found DNA fragments resulting from potential circRNAs of BEAN1 and TK2. We could not obtain findings suggesting the involvement of circRNA(s) in the pathogenesis of SCA31.

Free Research Field

神経内科学、神経変性疾患、遺伝性神経筋疾患