UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Cell models for Down syndrome-Alzheimer’s disease research

Wu, Yixing; West, Nicole; Bhattacharyya, Anita; Wiseman, Frances K; (2022) Cell models for Down syndrome-Alzheimer’s disease research. Neuronal Signaling , 6 (1) , Article NS20210054. 10.1042/ns20210054. Green open access

[thumbnail of Wiseman_Cell models for Down syndrome-Alzheimer’s disease research_VoR.pdf]
Preview
Text
Wiseman_Cell models for Down syndrome-Alzheimer’s disease research_VoR.pdf

Download (1MB) | Preview

Abstract

Down syndrome (DS) is the most common chromosomal abnormality and leads to intellectual disability, increased risk of cardiac defects, and an altered immune response. Individuals with DS have an extra full or partial copy of chromosome 21 (trisomy 21) and are more likely to develop early-onset Alzheimer’s disease (AD) than the general population. Changes in expression of human chromosome 21 (Hsa21)-encoded genes, such as APP, play an important role in the pathogenesis of AD in DS (DS-AD). However, the mechanisms of DS-AD remain poorly understood. To date, several mouse models with an extra copy of genes syntenic to Hsa21 have been developed to characterize DS-AD-related phenotypes. Nonetheless, due to genetic and physiological differences between mouse and human, mouse models cannot faithfully recapitulate all features of DS-AD. Cells differentiated from human induced pluripotent stem cells (iPSCs), isolated from individuals with genetic diseases, can be used to model disease-related cellular and molecular pathologies, including DS. In this review, we will discuss the limitations of mouse models of DS and how these can be addressed using recent advancements in modelling DS using human iPSCs and iPSC-mouse chimeras, and potential applications of iPSCs in preclinical studies for DS-AD.

Type: Article
Title: Cell models for Down syndrome-Alzheimer’s disease research
Open access status: An open access version is available from UCL Discovery
DOI: 10.1042/ns20210054
Publisher version: https://doi.org/10.1042/NS20210054
Language: English
Additional information: © 2022 The Author(s). This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (https://creativecommons.org/licenses/by/4.0/).
Keywords: Induced pluripotent stem cells, Alzheimers disease, Down syndrome
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > UK Dementia Research Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
URI: https://discovery.ucl.ac.uk/id/eprint/10146104
Downloads since deposit
69Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item