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Inborn errors of metabolism: Lessons from iPSC models
Rubén Escribá1,2,3, Raquel Ferrer-Lorente1,2,3, Ángel Raya4,5,6,7
1Regenerative Medicine Program, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Spain.
Reviews in Endocrine & Metabolic Disorders
|July 9, 2021
Summary
Patient-specific induced pluripotent stem cells (iPSCs) offer powerful human disease models, especially for inborn errors of metabolism (IEMs). This review outlines key lessons learned from using iPSCs to model IEMs, guiding future research efforts.
Area of Science:
- Biomedical Research
- Stem Cell Biology
- Genetics
Background:
- Reprogramming human somatic cells to pluripotency enables novel human disease models.
- Inborn errors of metabolism (IEMs) are well-suited for modeling using induced pluripotent stem cells (iPSCs).
- Numerous IEMs have been modeled using patient-specific iPSCs.
Purpose of the Study:
- To review the advantages and disadvantages of iPSC-based disease modeling for IEMs.
- To discuss challenges and proposed solutions in iPSC modeling of IEMs.
- To provide six key lessons for researchers developing future iPSC-based IEM models.
Main Methods:
- Literature review of existing iPSC-based IEM models.
- Analysis of successes and limitations in IEM modeling using iPSCs.
- Synthesis of lessons learned from prior iPSC modeling studies.
Main Results:
- iPSC technology provides valuable human experimental models for IEMs.
- Several IEMs have been successfully modeled using patient-derived iPSCs.
- Specific challenges exist in iPSC-based IEM modeling, with proposed solutions.
Conclusions:
- iPSC-based modeling is a promising approach for understanding IEMs.
- Careful consideration of established lessons is crucial for future iPSC-based IEM research.
- This review offers guidance for optimizing iPSC applications in IEM disease modeling.
Keywords:
CRISPR/Cas9Disease modelingHuman induced pluripotent stem cellsLysosomal storage disordersReprogrammingTargeted genome editionMore Related Videos
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