Human induced pluripotent stem cells for modelling neurodevelopmental disorders.
paper
Cited
Public
- Authors
- Ardhanareeswaran, Karthikeyan; Mariani, Jessica; Coppola, Gianfilippo; Abyzov, Alexej; Vaccarino, Flora M
- Year
- 2017
- Journal
- Nature reviews. Neurology
- PMID
- 28418023
- DOI
- 10.1038/nrneurol.2017.45
- PMCID
- PMC5782822
We currently have a poor understanding of the pathogenesis of neurodevelopmental disorders, owing to the fact that postmortem and imaging studies can only measure the postnatal status quo and offer little insight into the processes that give rise to the observed outcomes. Human induced pluripotent stem cells (hiPSCs) should, in principle, prove powerful for elucidating the pathways that give rise to neurodevelopmental disorders. hiPSCs are embryonic-stem-cell-like cells that can be derived from somatic cells. They retain the unique genetic signature of the individual from whom they were derived, and thus enable researchers to recapitulate that individual's idiosyncratic neural development in a dish. In the case of individuals with disease, we can re-enact the disease-altered trajectory of brain development and examine how and why phenotypic and molecular abnormalities arise in these diseased brains. Here, we review hiPSC biology and possible experimental designs when using hiPSCs to model disease. We then discuss existing hiPSC models of neurodevelopmental disorders. Our hope is that, as some studies have already shown, hiPSCs will illuminate the pathophysiology of developmental disorders of the CNS and lead to therapeutic options for the millions that are affected by these conditions.
Experimental workflow for hiPSC models of neurodevelopmental disorders. Different experimental options are shown with regards to type of controls (cross-sectional, matched pair or family contrpol), choice of reprogrammed cell type, type of differentiation protocol, and outcome metrics. For patients with X-linked disorders, different colored cells represent cells with either the wild type or the mutated X allele. Corrected cells represent the same patient-derived cells after genome editing or drug treatment.
LLM interpretation
This figure is a schematic diagram illustrating the experimental workflow for using human induced pluripotent stem cell (hiPSC) models to study neurodevelopmental disorders. It maps the progression from somatic cell biopsy through reprogramming into iPSCs and differentiation into progenitors, monolayers, and organoids for three groups: unaffected controls, patients with non-X-linked disorders, and patients with X-linked disorders. A bottom table indicates which evaluation metrics (e.g., clinical diagnosis, genome sequencing, cell activity) are applied at each stage of the cellular workflow, including the use of corrected cells for potential phenotype reversal.
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|---|---|---|
| Genetics of Alcohol Use Disorder: A Role for Induced Pluripotent Stem Cells? | 2018 | 29897633 |
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