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July 29, 2026International Journal of Stem CellsOpen Access

A Cerebral Organoid Model of Familial Alzheimer’s Disease Using Amyloid Precursor Protein Mutation, Val669Leu ( APP Seoul )

Won Hee Jung Seung Tack Oh Mu Seog Choe Yu Jin Kwon So Jin Kim Ye Seong Jeon Kyung Min Baek Woochul Chang Kyung Seob Lim Joong‐Sun Kim Seung Pil Yun Min Young Lee

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Key Points

The aim is to investigate the effects of the APP mutation Val669Leu on brain cell models related to familial Alzheimer’s disease.
Developed cerebral organoids from induced pluripotent stem cells carrying the APP mutation.
Analyzed neurodegeneration and amyloid-beta plaque formation in the organoids.
Utilized a systematic approach to assess cellular changes over time.
Observed increased amyloid-beta levels in organoids carrying the Val669Leu mutation compared to controls.
Identified significant neurodegenerative markers in mutation-bearing organoids at 12 weeks, p<0.05.
Demonstrated altered cellular signaling pathways involved in neuroprotection and neurodegeneration.

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Implication

Reveals brain cell changes in familial Alzheimer’s disease, indicating new research pathways.

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Cite This Study

Jung et al. (2026) studied this question.

synapsesocial.com/papers/6a6c46c0747664a1aa73bb91 https://doi.org/10.15283/ijsc25044

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Generation of an Alzheimer’s Disease Model Derived from Induced Pluripotent Stem Cells with an APP Gene Mutation2024 · 2 citations
2Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein geneOriginal Research · 1992
3The Icelandic mutation APP <sup>A673T</sup> on amyloid-β plaque burden in the 5xFAD Alzheimer model2025
4Cryo-EM studies of amyloid-β fibrils from human and murine brains carrying the Uppsala APP mutation (Δ690–695)Original Research · 2025 · 1 citations
5Generation of Alzheimer’s Disease Model Derived from Induced Pluripotent Stem Cells with APP Gene Mutation2024 · 3 citations

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The Icelandic Mutation in the Murine APP Gene, mAPPA673T, on Amyloid-β Plaque Burden in the 5×FAD Alzheimer Model2026
A unique subpopulation of wild-type neurons recapitulating familial Alzheimer’s disease phenotypes2025
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer’s Disease2018

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