Molecular analysis and therapeutic investigation of SCA36

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591263
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Gunma University (2013-2014); Okayama University (2012)
• Principal Investigator: IKEDA Yoshio 群馬大学, 医学(系)研究科(研究院), 教授 (00282400)
• Co-Investigator(Kenkyū-buntansha): KURATA Tomoko 岡山大学, 大学病院, 助教 (40598562) ; MORIMOTO Nobutoshi 岡山大学, 大学病院, 助教 (60598556)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 脊髄小脳変性症 / RNA gain-of-function / マイクロサテライトリピート / spinocerebellar ataxia / SCD / SCA36 / NOP56 / GGCCTGリピート

Outline of Final Research Achievements

Cerebellar ataxia, motor neuron involvement, and sensorineural hearing loss are found to be the characteristic clinical findings of genetic disease SCA36/Asidan. The RNA-FISH analysis using an SCA36/Asidan autopsy specimen, RNA foci were found in the nuclei of neurons from various parts of CNS as well as skeletal muscles. There is a large variety of appearance in size, shape, and distribution among RNA foci. Based on these findings, the molecular effect of SCA36 mutation might be involved in the RNA gain-of-function mechanism.

Free Research Field

神経内科学