Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tif

Introduction<p>Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease caused by the loss of upper and lower motor neurons. Mutations in the FUS/TLS gene have been reported as the second most common mutation in Japanese patients with familial ALS. In recent years, lower...

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Glavni avtor: Asako Otomo (251531) (author)
Drugi avtorji: Keiko Nishijima (21776255) (author), Yuta Murakami (2178398) (author), Mitsuru Ishikawa (606461) (author), Haruka Yudahira (21776258) (author), Kento Shimakura (21776261) (author), Hideyuki Okano (47690) (author), Masashi Aoki (35088) (author), Hiroshi Kimura (3849) (author), Shinji Hadano (251529) (author)
Izdano: 2025
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_version_ 1851484332008407040
author Asako Otomo (251531)
author2 Keiko Nishijima (21776255)
Yuta Murakami (2178398)
Mitsuru Ishikawa (606461)
Haruka Yudahira (21776258)
Kento Shimakura (21776261)
Hideyuki Okano (47690)
Masashi Aoki (35088)
Hiroshi Kimura (3849)
Shinji Hadano (251529)
author2_role author
author
author
author
author
author
author
author
author
author_facet Asako Otomo (251531)
Keiko Nishijima (21776255)
Yuta Murakami (2178398)
Mitsuru Ishikawa (606461)
Haruka Yudahira (21776258)
Kento Shimakura (21776261)
Hideyuki Okano (47690)
Masashi Aoki (35088)
Hiroshi Kimura (3849)
Shinji Hadano (251529)
author_role author
dc.creator.none.fl_str_mv Asako Otomo (251531)
Keiko Nishijima (21776255)
Yuta Murakami (2178398)
Mitsuru Ishikawa (606461)
Haruka Yudahira (21776258)
Kento Shimakura (21776261)
Hideyuki Okano (47690)
Masashi Aoki (35088)
Hiroshi Kimura (3849)
Shinji Hadano (251529)
dc.date.none.fl_str_mv 2025-07-24T05:33:57Z
dc.identifier.none.fl_str_mv 10.3389/fncel.2025.1590732.s007
dc.relation.none.fl_str_mv https://figshare.com/articles/figure/Image_3_Investigation_of_early_axonal_phenotypes_in_an_iPSC-derived_ALS_cellular_model_using_a_microfluidic_device_tif/29633705
dc.rights.none.fl_str_mv CC BY 4.0
info:eu-repo/semantics/openAccess
dc.subject.none.fl_str_mv Cellular Interactions (incl. Adhesion, Matrix, Cell Wall)
amyotrophic lateral sclerosis (ALS)
iPSCs
microfluidic device
FUS/TLS
lower motor neurons
dc.title.none.fl_str_mv Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tif
dc.type.none.fl_str_mv Image
Figure
info:eu-repo/semantics/publishedVersion
image
description Introduction<p>Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease caused by the loss of upper and lower motor neurons. Mutations in the FUS/TLS gene have been reported as the second most common mutation in Japanese patients with familial ALS. In recent years, lower motor neurons (LMNs) differentiated from induced pluripotent stem cells (iPSCs) derived from ALS patients have been widely used to analyze the mechanisms of neuronal cell death and degeneration.</p>Methods<p>In this study, we developed a microfluidic device designed to observe axonal growth, morphology, and trafficking at high resolution in neurons derived from induced pluripotent stem cells (iPSCs) and tested whether our microfluidic device effectively evaluates neurodegenerative phenotypes. We used iPSCs carrying homozygous FUS/TLS mutations (FUS_H517D) to induce LMNs by expressing NEUROG2, ISL1, and LHX3 under the control of the tetracycline regulation system.</p>Results and discussions<p>After seven days of in vitro differentiation (DIV7), we confirmed that over 95% of iPSCs differentiated into HB9-positive LMNs. Notably, the cell viability of FUS_H517D LMNs was comparable to that of LMNs differentiated from iPSCs without the FUS/TLS mutation at DIV7. However, by DIV14 and DIV21, the viability of FUS_H517D LMNs was notably lower than that of control LMNs, indicating degeneration of FUS_H517D LMNs after differentiation. Using our microfluidic device, we assessed axonal phenotypes in FUS_H517D LMNs. Under oxidative stress conditions, we observed that the axonal length of FUS_H517D LMNs was significantly shorter than that of control cells as early as DIV7, with this axonal growth restriction becoming more pronounced by DIV11. This suggests that axonal growth restriction is an early detectable phenotype in degenerating neurons. Additionally, we examined mitochondrial trafficking within axons in our device, which is often disrupted in degenerative neurons. Our results showed a significant increase in the number of motile mitochondria in FUS_H517D LMNs, with retrograde transport accounting for a large portion of trafficking. Our microfluidic device-based culture and evaluation system using FUS_H517D LMNs offers a valuable ALS cellular model focused on early axonal phenotypes. This approach contributes to the study of molecular mechanisms underlying axonal degeneration in ALS.</p>
eu_rights_str_mv openAccess
id Manara_24dceaf3a9b6dea7b3f7fc7b6e34e028
identifier_str_mv 10.3389/fncel.2025.1590732.s007
network_acronym_str Manara
network_name_str ManaraRepo
oai_identifier_str oai:figshare.com:article/29633705
publishDate 2025
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rights_invalid_str_mv CC BY 4.0
spelling Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tifAsako Otomo (251531)Keiko Nishijima (21776255)Yuta Murakami (2178398)Mitsuru Ishikawa (606461)Haruka Yudahira (21776258)Kento Shimakura (21776261)Hideyuki Okano (47690)Masashi Aoki (35088)Hiroshi Kimura (3849)Shinji Hadano (251529)Cellular Interactions (incl. Adhesion, Matrix, Cell Wall)amyotrophic lateral sclerosis (ALS)iPSCsmicrofluidic deviceFUS/TLSlower motor neuronsIntroduction<p>Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease caused by the loss of upper and lower motor neurons. Mutations in the FUS/TLS gene have been reported as the second most common mutation in Japanese patients with familial ALS. In recent years, lower motor neurons (LMNs) differentiated from induced pluripotent stem cells (iPSCs) derived from ALS patients have been widely used to analyze the mechanisms of neuronal cell death and degeneration.</p>Methods<p>In this study, we developed a microfluidic device designed to observe axonal growth, morphology, and trafficking at high resolution in neurons derived from induced pluripotent stem cells (iPSCs) and tested whether our microfluidic device effectively evaluates neurodegenerative phenotypes. We used iPSCs carrying homozygous FUS/TLS mutations (FUS_H517D) to induce LMNs by expressing NEUROG2, ISL1, and LHX3 under the control of the tetracycline regulation system.</p>Results and discussions<p>After seven days of in vitro differentiation (DIV7), we confirmed that over 95% of iPSCs differentiated into HB9-positive LMNs. Notably, the cell viability of FUS_H517D LMNs was comparable to that of LMNs differentiated from iPSCs without the FUS/TLS mutation at DIV7. However, by DIV14 and DIV21, the viability of FUS_H517D LMNs was notably lower than that of control LMNs, indicating degeneration of FUS_H517D LMNs after differentiation. Using our microfluidic device, we assessed axonal phenotypes in FUS_H517D LMNs. Under oxidative stress conditions, we observed that the axonal length of FUS_H517D LMNs was significantly shorter than that of control cells as early as DIV7, with this axonal growth restriction becoming more pronounced by DIV11. This suggests that axonal growth restriction is an early detectable phenotype in degenerating neurons. Additionally, we examined mitochondrial trafficking within axons in our device, which is often disrupted in degenerative neurons. Our results showed a significant increase in the number of motile mitochondria in FUS_H517D LMNs, with retrograde transport accounting for a large portion of trafficking. Our microfluidic device-based culture and evaluation system using FUS_H517D LMNs offers a valuable ALS cellular model focused on early axonal phenotypes. This approach contributes to the study of molecular mechanisms underlying axonal degeneration in ALS.</p>2025-07-24T05:33:57ZImageFigureinfo:eu-repo/semantics/publishedVersionimage10.3389/fncel.2025.1590732.s007https://figshare.com/articles/figure/Image_3_Investigation_of_early_axonal_phenotypes_in_an_iPSC-derived_ALS_cellular_model_using_a_microfluidic_device_tif/29633705CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/296337052025-07-24T05:33:57Z
spellingShingle Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tif
Asako Otomo (251531)
Cellular Interactions (incl. Adhesion, Matrix, Cell Wall)
amyotrophic lateral sclerosis (ALS)
iPSCs
microfluidic device
FUS/TLS
lower motor neurons
status_str publishedVersion
title Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tif
title_full Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tif
title_fullStr Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tif
title_full_unstemmed Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tif
title_short Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tif
title_sort Image 3_Investigation of early axonal phenotypes in an iPSC-derived ALS cellular model using a microfluidic device.tif
topic Cellular Interactions (incl. Adhesion, Matrix, Cell Wall)
amyotrophic lateral sclerosis (ALS)
iPSCs
microfluidic device
FUS/TLS
lower motor neurons