Application of Urine-Derived Stem Cells to Cellular Modeling in Neuromuscular and Neurodegenerative Diseases

Frontiers in Molecular Neuroscience, Год журнала: 2019, Номер 12

Опубликована: Дек. 5, 2019

Neuromuscular and neurodegenerative diseases are mostly modelled using genetically modified animals such as mice. However, animal models do not recapitulate all the phenotypes that specific to human disease. This is mainly due genetic, anatomical physiological difference in neuromuscular systems of human. The emergence direct indirect somatic cell reprogramming technologies may overcome this limitation because they enable use disease patient-specific cellular enhanced platforms for drug discovery autologous cell-based therapy. Induced pluripotent stem cells (iPSCs) urine-derived (USCs) increasingly employed pathophysiology various diseases. Recent modelling approaches utilizes highly complex differentiation faithfully mimic tissue- organ-level dysfunctions. In review, we discuss promising models, USC- iPSC-based approaches, currently being used model

Язык: Английский

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Aortic “Disease-in-a-Dish”: Mechanistic Insights and Drug Development Using iPSC-Based Disease Modeling

Frontiers in Cell and Developmental Biology, Год журнала: 2020, Номер 8

Опубликована: Окт. 28, 2020

Thoracic aortic diseases, whether sporadic or due to a genetic disorder such as Marfan syndrome, lack effective medical therapies, with limited translation of treatments that are highly successful in mouse models into the clinic. Patient-derived induced pluripotent stem cells (iPSCs) offer opportunity establish new human diseases. Here we review power and potential these systems identify cellular molecular mechanisms underlying disease discuss recent advances, gene editing, smooth muscle cell embryonic lineage. In particular, practical aspects vascular derivation characterization, provide our personal insights challenges limitations this approach. Future applications, genotype-phenotype association, drug screening, precision medicine discussed. We propose iPSC-derived could guide future clinical trials via "clinical-trials-in-a-dish", thus paving way for improved therapies patients.

Язык: Английский

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SOX9 haploinsufficiency reveals SOX9-Noggin interaction in BMP-SMAD signaling pathway in chondrogenesis

Cellular and Molecular Life Sciences, Год журнала: 2025, Номер 82(1)

Опубликована: Март 2, 2025

Abstract Campomelic Dysplasia (CD) is a rare congenital disease caused by haploinsufficiency (HI) in SOX9. Patients with CD typically present skeletal abnormalities and 75% of them have sex reversal. In this study, we use CRISPR/Cas9 to generate human induced pluripotent stem cell (hiPSC) model from heathy male donor, based on previously reported SOX9 splice site mutation patients. This hiPSCs-derived chondrocytes heterozygotes (HT) homozygotes (HM) carriers showed significant defects chondrogenesis. Bulk RNA profiling revealed that the BMP-SMAD signaling pathway, ribosome-related, chromosome segregation-related gene sets were altered HT chondrocytes. The profile also noggin upregulation chondrocytes, ChIP-qPCR confirming binds distal regulatory element noggin. suggests plays feedback role BMP pathway modulating expression rather than acting solely as downstream regulator. provides further insights into its dosage sensitivity Overexpression promising results improved sulfated glycosaminoglycans (GAGs) aggregation COL2A1 following differentiation. We hope finding could provide better understanding dosage-dependent chondrogenesis contribute development therapeutic targets for

Язык: Английский

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Stem Cell-Based Approaches for Spinal Cord Injury: The Promise of iPSCs

Biology, Год журнала: 2025, Номер 14(3), С. 314 - 314

Опубликована: Март 20, 2025

Spinal cord injury (SCI) is a life-altering condition that leads to severe neurological deficits and significantly impacts patients’ quality of life. Despite advancements in medical care, current treatment options remain largely palliative, with limited ability promote meaningful functional recovery. Induced pluripotent stem cells (iPSCs) have emerged as promising avenue for regenerative medicine, offering patient-specific, cell-based therapeutic potential SCI repair. This review provides comprehensive overview recent iPSC-based approaches SCI, detailing the strategies used generate neural cell types, including progenitor cells, oligodendrocytes, astrocytes, microglia, their roles promoting neuroprotection regeneration. Additionally, we examine key preclinical clinical studies, highlighting recovery assessments discussing both standardized debated evaluation metrics. Furthermore, address critical challenges related safety, tumorigenicity, immune response, survival, integration, overcoming inhibitory microenvironment injured spinal cord. We also explore emerging biomaterial scaffolds, gene editing, rehabilitation may enhance applicability therapies. By addressing these refining translational strategies, interventions hold significant revolutionize improve outcomes affected individuals.

Язык: Английский

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Pluripotent Stem Cells: Recent Advances and Emerging Trends

Biomedicines, Год журнала: 2025, Номер 13(4), С. 765 - 765

Опубликована: Март 21, 2025

The field of induced pluripotent stem cells (iPSCs) continues to evolve, offering unprecedented potential for regenerative medicine, disease modeling, and therapeutic applications [...]

Язык: Английский

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