Induced pluripotent stem cells as a disease model for studying inherited arrhythmias: promises and hurdles

2012 ◽  
Vol 9 (4) ◽  
pp. e199-e207 ◽  
Author(s):  
Kathy O. Lui ◽  
Maxine W. Stachel ◽  
Deborah K. Lieu ◽  
Ronald A. Li ◽  
Lei Bu
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Disease Model ◽  
Induced Pluripotent ◽  
Inherited Arrhythmias

scholarly journals Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia

2021 ◽  
Vol 22 (3) ◽  
pp. 1161
Author(s):  
Esmeralda Alonso-Barroso ◽  
Belén Pérez ◽  
Lourdes Ruiz Desviat ◽  
Eva Richard
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Ex Vivo ◽  
Disease Model ◽  
Propionic Acidemia ◽  
Heart Tissue ◽  
Altered Expression ◽  
Cellular Models ◽  
Induced Pluripotent

Propionic acidemia (PA), one of the most frequent life-threatening organic acidemias, is caused by mutations in either the PCCA or PCCB genes encoding both subunits of the mitochondrial propionyl-CoA carboxylase (PCC) enzyme. Cardiac alterations (hypertrophy, dilated cardiomyopathy, long QT) are one of the major causes of mortality in patients surviving the neonatal period. To overcome limitations of current cellular models of PA, we generated induced pluripotent stem cells (iPSCs) from a PA patient with defects in the PCCA gene, and successfully differentiated them into cardiomyocytes. PCCA iPSC-derived cardiomyocytes exhibited reduced oxygen consumption, an accumulation of residual bodies and lipid droplets, and increased ribosomal biogenesis. Furthermore, we found increased protein levels of HERP, GRP78, GRP75, SIG-1R and MFN2, suggesting endoplasmic reticulum stress and calcium perturbations in these cells. We also analyzed a series of heart-enriched miRNAs previously found deregulated in the heart tissue of a PA murine model and confirmed their altered expression. Our novel results show that PA iPSC-cardiomyocytes represent a promising model for investigating the pathological mechanisms underlying PA cardiomyopathies, also serving as an ex vivo platform for therapeutic evaluation.

scholarly journals Differentiation of Urine-Derived Induced Pluripotent Stem Cells to Neuron, Astrocyte and Microvascular Endothelial Cells from a Diabetic Patient

2019 ◽  
Author(s):  
Wan Liu ◽  
Ping Zhang ◽  
Jing Tan ◽  
Yongzhong Lin
Keyword(s):  
Stem Cells ◽  
Endothelial Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Disease Model ◽  
Morphological Characteristics ◽  
Microvascular Endothelial Cells ◽  
Alkaline Phosphatase Staining ◽  
Microvascular Endothelial ◽  
Induced Pluripotent

AbstractBackgroundComplications of central nervous system (CNS) in type 2 diabetes mellitus (T2DM) often lead to cognitive impairment and seriously affect the quality of life. However, there is no individualized disease model. Urinary epithelial cells (UECs) can be an ideal source for generating human induced pluripotent stem cells (hiPSCs) and progenitors, as they are easily accessible, non-invasive and universally available. Therefore, we intended to differentiate urine-derived hiPSCs into neuron (N), astrocyte (A) and microvascular endothelial cells (E) from a T2DM patient for future study its pathogenesis and precision medical treatment.Methods and ResultshiPSCs was successfully induced from UECs using integration free Sendai virus technology in a totally noninvasive manner. It had a normal karyotype (46, XY) and were proved to be pluripotent by immunofluorescence staining, alkaline phosphatase staining, karyotyping, teratoma experiments and methylated analysis. N, A and E were successfully induced and displayed typical morphological characteristics.ConclusionsThis study indicates that N, A, E can be generated from urine-derived hiPSCs. Then we intend to create a new disease model in vitro to simulate the cerebral microenvironment of DM which will provide new methods for further investigate the disease-specific mechanisms.

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