Elucidation of pathogenetic mechanism of amyotrophic lateral sclerosis caused by mutation in optineurin

• Project/Area Number: 25860713
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurology
• Research Institution: Hiroshima University
• Principal Investigator: Kuramochi Masahito 広島大学, 原爆放射線医科学研究所, 特任助教 (30589122)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000); Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2013: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
• Keywords: 筋萎縮性側索硬化症 / 神経変性 / オプチニューリン / 運動ニューロン / 脊髄 / SOD1 / 神経変性疾患

Outline of Final Research Achievements

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegeneration disease of motor neurons resulting in the atrophy and weakness of muscle. Optineurin (OPTN) is one of genes causing ALS. It is thought that dysfunction and deletion of OPTN develop ALS. Therefore, I produced OPTN knockout mouse and then examined its mice behaviorally and histologically at both the young and the old age. At the results of these experiments, there was no significantly difference between non-genetically modified mice and the OPTN knockout mice. However, the deletion of OPTN prolonged survival in a transgenic mouse model of ALS.