Induced pluripotent stem cell-based models: Are we ready for that heart in a dish?

Bissoli, Irene; D’Adamo, Stefania; Pignatti, Carla; Agnetti, Giulio; Flamigni, Flavio; Cetrullo, Silvia

doi:10.3389/fcell.2023.1129263

Cited by 4 publications

(3 citation statements)

References 52 publications

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“…CRISPR-Cas9 is a tool for the correction of harmful variants in patients with congenital heart disease. The process of distinguishing hiPSC-CMs shares similarities with the FHF [207,208] or SHF, cardiac neural crest, or pre-valvular endocardial cells [209][210][211]. Combined with epigenetic and transcriptional profiling, investigators can analyse early developmental stages to assess the differentiation of mesoderm progenitor cells into early cardiomyocytes [178].…”

Section: Findings From Pluripotent Stem Cell Models Of Congenital Hea...mentioning

confidence: 99%

In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease

Nappi

2024

IJMS

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The use of next-generation sequencing has provided new insights into the causes and mechanisms of congenital heart disease (CHD). Examinations of the whole exome sequence have detected detrimental gene variations modifying single or contiguous nucleotides, which are characterised as pathogenic based on statistical assessments of families and correlations with congenital heart disease, elevated expression during heart development, and reductions in harmful protein-coding mutations in the general population. Patients with CHD and extracardiac abnormalities are enriched for gene classes meeting these criteria, supporting a common set of pathways in the organogenesis of CHDs. Single-cell transcriptomics data have revealed the expression of genes associated with CHD in specific cell types, and emerging evidence suggests that genetic mutations disrupt multicellular genes essential for cardiogenesis. Metrics and units are being tracked in whole-genome sequencing studies.

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Section: Findings From Pluripotent Stem Cell Models Of Congenital Hea...mentioning

confidence: 99%

In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease

Nappi

2024

IJMS

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“…Using the large-scale parallel assays designed for hiPSCs can differentiate likely contributory non-coding variants from numerous benign polymorphisms can help identify the associated genes. [213] Additionally, profiling the epigenetics and transcription of hiPSCs during cellular differentiation offers insight. It is challenging to achieve early cardiogenesis in model organisms.…”

Section: Findings From Pluripotent Stem Cell Models Of Congenital Hea...mentioning

confidence: 99%

In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease

Nappi

2024

Preprint

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New insights into the causes and mechanisms of congenital heart disease (CHD) have been gained through the use of next-generation sequencing. Examination of the whole exome sequence detects detrimental gene variations modifying single or contiguous nucleotides, that are characterised as pathogenicity based on statistical assessments of families. and correlates with congenital heart disease, elevated expression during heart development, and reduction of harmful protein-coding mutations in the general population. Patients with CHD and extracardiac abnormalities enriched for gene classes meeting these criteria. CHDs and extracardiac defects, supporting a common set of pathways in the organogenesis of CHDs. Single-cell transcriptomics data reveal the expression of genes associated with CHD in specific cell lineages, and emerging evidence suggests that genetic variants disrupt multicellular genes essential for cardiogenesis. Metrics and units are being tracked in whole genome sequence studies.

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“…On this topic, targeting signaling pathways such as PPARα, Pitx2 or the metabolic switch from glucose to fatty acid makes it possible to work with cardiomyocytes presenting a more mature morphology and phenotype at an earlier stage. ( Song et al, 2021 ; Bissoli et al, 2023 ).…”

Section: Highlights From Hipsc-cmsmentioning

confidence: 99%

Arrhythmogenic cardiomyopathy as a myogenic disease: highlights from cardiomyocytes derived from human induced pluripotent stem cells

et al. 2023

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Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterized by the replacement of myocardium by fibro-fatty infiltration and cardiomyocyte loss. ACM predisposes to a high risk for ventricular arrhythmias. ACM has initially been defined as a desmosomal disease because most of the known variants causing the disease concern genes encoding desmosomal proteins. Studying this pathology is complex, in particular because human samples are rare and, when available, reflect the most advanced stages of the disease. Usual cellular and animal models cannot reproduce all the hallmarks of human pathology. In the last decade, human-induced pluripotent stem cells (hiPSC) have been proposed as an innovative human cellular model. The differentiation of hiPSCs into cardiomyocytes (hiPSC-CM) is now well-controlled and widely used in many laboratories. This hiPSC-CM model recapitulates critical features of the pathology and enables a cardiomyocyte-centered comprehensive approach to the disease and the screening of anti-arrhythmic drugs (AAD) prescribed sometimes empirically to the patient. In this regard, this model provides unique opportunities to explore and develop new therapeutic approaches. The use of hiPSC-CMs will undoubtedly help the development of precision medicine to better cure patients suffering from ACM. This review aims to summarize the recent advances allowing the use of hiPSCs in the ACM context.

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Induced pluripotent stem cell-based models: Are we ready for that heart in a dish?

Cited by 4 publications

References 52 publications

In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease

In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease

In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease

Arrhythmogenic cardiomyopathy as a myogenic disease: highlights from cardiomyocytes derived from human induced pluripotent stem cells

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