Establishment and Characterization of iPS cell lines from Japanese ALS2 patients

2015 Fiscal Year Final Research Report

• Project/Area Number: 25830040
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Nerve anatomy/Neuropathology
• Research Institution: Tokai University
• Principal Investigator: OTOMO Asako 東海大学, 医学部, 助教 (50535226)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: ALS / ALS2 / iPS cell

Outline of Final Research Achievements

ALS2 is a juvenile recessive form of ALS. We and others reported that loss of function of the ALS2 protein (ALS2) accounts for motor neuron degeneration (MND) in the patients. However, the underling mechanism of MND in the patient is not fully understood. Recently, Japanese ALS2 cases were reported. In this study, to further analyze the pathogenesis of ALS2, we established iPS cell lines of Japanese ALS2 patients and analyzed the character of a motor neuron model of ALS2 differentiated from the iPS cells. We succeeded to generate iPS cell lines from two independent ALS2 patients. Further, by the treatment of several inhibitors, we differentiated the iPS cells to HB9/Ilet-1-positive motor neurons, which allowed us to explore the cellular phenotype. Currently, a comparison of RNA-seq data from the ALS2 model cells with those from non-patient derived motor neurons is in progress. Further analysis may uncover the signal pathway specifically disturbed in ALS2.

Free Research Field

神経細胞生物学