Establishment of a novel animal model of ALS expressing GGGGCC repeat RNA in Drosophila, and analyses of its pathogenic mechanisms

2014 Fiscal Year Final Research Report

• Project/Area Number: 25860733
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurology
• Research Institution: National Center of Neurology and Psychiatry
• Principal Investigator: UEYAMA Morio 独立行政法人国立精神・神経医療研究センター, 神経研究所 疾病研究第四部, 科研費研究員 (20386593)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 脳・神経 / 脳神経疾患 / RNA / 遺伝子 / ショウジョウバエ / RNA結合蛋白質

Outline of Final Research Achievements

Amyotrophic lateral sclerosis (ALS) is a devastating disease with movement disorder characterized by degeneration and loss of motor neurons. Recently, an abnormal expansion of GGGGCC repeat in the untranslated region of C9ORF72 gene has been found to be responsible for familial ALS. However, its molecular mechanism leading to ALS pathogenesis remains unclear. To elucidate the pathogenic mechanisms of ALS caused by an expanded repeat, we had established a novel Drosophila model of ALS expressing the GGGGCC repeat RNA. Next, we found that one of the causative gene of ALS, FUS genetically interacts with GGGGCC repeat, indicating that FUS contributes to pathogenic mechanisms of ALS related to GGGGCC repeat expansion.

Free Research Field

遺伝学