Elucidating cell type-specific pathology of ALS using isogenic iPS cells

2017 Fiscal Year Final Research Report

• Project/Area Number: 15H05667
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Single-year Grants
• Research Field: Neurology
• Research Institution: Tohoku University
• Principal Investigator: Suzuki Naoki 東北大学, 大学病院, 助教 (70451599)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 筋萎縮性側索硬化症

Outline of Final Research Achievements

FUS gene mutation in 13 families was identified by accumulation of familial ALS families. Among them, skin biopsy of FUS-related ALS (FUS-ALS) in two families was carried out with consent in accordance with the procedure approved by the Ethics Committee of the University. From this, primary culture fibroblasts were established and iPS cells were established at a collaborating researcher's facility. We analyzed RNA sequence sequence after motor neuron differentiation and reported to Stem Cell Reports in 2016. We also produced isogenic lines using genome editing technology. In order to reproduce the characteristic long axon protrusions of motor neurons in the culture environment using the iPS cells produced, we also examined the condition in a novel microfluidic device. By RNAseq analysis, gene profiles expressed in cell bodies and axons were identified.

Free Research Field

神経内科学