Determination of common mechanisms shared by multiple types of spinocerebellar ataxia

2014 Fiscal Year Final Research Report

• Project/Area Number: 24590407
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human pathology
• Research Institution: Gunma University
• Principal Investigator: NAKAMURA KAZUHIRO 群馬大学, 医学(系)研究科(研究院), 准教授 (10327835)
• Co-Investigator(Kenkyū-buntansha): IKOTA Hayato 群馬大学, 大学院医学系研究科, 講師 (90420116)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: ポリグルタミン病

Outline of Final Research Achievements

Among various types of the spinocerebellar ataxia, autosomal-dominantly inherited polyglutamine diseases are the most frequent types and are caused by the expansion of a CAG trinucleotide repeat in the coding region of causative genes. Because expanded polyglutamine tract is shared by multiple types of polyglutamine diseases, I tryed to look for the cotribution of expanded polyglutamine itself to neurodegeneration. I produced transgenic (Tg) mice that overexpress 69 repeated glutamine in cerebellar purkinje cells (PCs). The polyglutamine aggregates were seen as early as 2 weeks old, and extensive PC loss was observed at 3 months old in the Tg mice. An observation that injection of a drug that stabilizes microtubule into the Tg mice reduced the number of PC death in some lobules in the cerebellum might suggest involvement of microtubule in PC death seen in polyglutamine diseases.

Free Research Field

神経生理学