scholarly journals Generation of Human-Induced Pluripotent Stem Cells to Model Spinocerebellar Ataxia Type 2 In vitro

2012 ◽  
Vol 51 (2) ◽  
pp. 237-248 ◽  
Author(s):  
Guangbin Xia ◽  
Katherine Santostefano ◽  
Takashi Hamazaki ◽  
Jilin Liu ◽  
S. H. Subramony ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia ◽  
Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Induced Pluripotent

scholarly journals Molecular and electrophysiological features of spinocerebellar ataxia type seven in induced pluripotent stem cells

PLoS ONE ◽  
2021 ◽  
Vol 16 (2) ◽  
pp. e0247434
Author(s):  
Richard J. Burman ◽  
Lauren M. Watson ◽  
Danielle C. Smith ◽  
Joseph V. Raimondo ◽  
Robea Ballo ◽  
...  
Keyword(s):  
Stem Cells ◽  
Neurodegenerative Diseases ◽  
Induced Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia ◽  
Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia Type ◽  
Patient Specific ◽  
Retinal Photoreceptors ◽  
Spinocerebellar Ataxia Type 7 ◽  
Induced Pluripotent

Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by a polyglutamine repeat expansion in the ATXN7 gene. Patients with this disease suffer from a degeneration of their cerebellar Purkinje neurons and retinal photoreceptors that result in a progressive ataxia and loss of vision. As with many neurodegenerative diseases, studies of pathogenesis have been hindered by a lack of disease-relevant models. To this end, we have generated induced pluripotent stem cells (iPSCs) from a cohort of SCA7 patients in South Africa. First, we differentiated the SCA7 affected iPSCs into neurons which showed evidence of a transcriptional phenotype affecting components of STAGA (ATXN7 and KAT2A) and the heat shock protein pathway (DNAJA1 and HSP70). We then performed electrophysiology on the SCA7 iPSC-derived neurons and found that these cells show features of functional aberrations. Lastly, we were able to differentiate the SCA7 iPSCs into retinal photoreceptors that also showed similar transcriptional aberrations to the SCA7 neurons. Our findings give technical insights on how iPSC-derived neurons and photoreceptors can be derived from SCA7 patients and demonstrate that these cells express molecular and electrophysiological differences that may be indicative of impaired neuronal health. We hope that these findings will contribute towards the ongoing efforts to establish the cell-derived models of neurodegenerative diseases that are needed to develop patient-specific treatments.

scholarly journals Generation of induced pluripotent stem cells from a patient with spinocerebellar ataxia type 3

2017 ◽  
Vol 18 ◽  
pp. 29-32 ◽  
Author(s):  
Bing-Wen Soong ◽  
Shih-Han Syu ◽  
Cheng-Hao Wen ◽  
Hui-Wen Ko ◽  
Mei-Ling Wu ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia ◽  
Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Induced Pluripotent ◽  
Type 3

scholarly journals Molecular and electrophysiological features of spinocerebellar ataxia type seven in induced pluripotent stem cells

2018 ◽  
Author(s):  
RJ Burman ◽  
LM Watson ◽  
DC Smith ◽  
JV Raimondo ◽  
R Ballo ◽  
...  
Keyword(s):  
Stem Cells ◽  
Neurodegenerative Diseases ◽  
Induced Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia ◽  
Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia Type ◽  
Patient Specific ◽  
Retinal Photoreceptors ◽  
Spinocerebellar Ataxia Type 7 ◽  
Induced Pluripotent

AbstractSpinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by a polyglutamine repeat expansion in the ATXN7 gene. Patients with this disease suffer from a degeneration of their cerebellar Purkinje neurons and retinal photoreceptors that result in a progressive ataxia and loss of vision. As with many neurodegenerative diseases, studies of pathogenesis have been hindered by a lack of disease-relevant models. To this end, we have generated induced pluripotent stem cells (iPSCs) from a cohort of SCA7 patients in South Africa. First, we differentiated the SCA7 affected iPSCs into neurons which showed evidence of a transcriptional phenotype affecting components of STAGA (ATXN7 and KAT2A) and the heat shock protein pathway (DNAJA1 and HSP70). We then performed electrophysiology on the SCA7 iPSC-derived neurons and found that these cells show features of functional aberrations. Lastly, we were able to differentiate the SCA7 iPSCs into retinal photoreceptors that also showed similar transcriptional aberrations to the SCA7 neurons. Our findings demonstrate that iPSC-derived neurons and photoreceptors from SCA7 patients express molecular and electrophysiological differences that are indicative of impaired neuronal health. We hope that these findings will contribute towards the ongoing efforts to establish the cell-derived models of neurodegenerative diseases that are needed to develop patient-specific treatments.

scholarly journals Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells

2017 ◽  
Vol 26 (22) ◽  
pp. 1612-1625 ◽  
Author(s):  
Carlo Bavassano ◽  
Andreas Eigentler ◽  
Ruslan Stanika ◽  
Gerald J. Obermair ◽  
Sylvia Boesch ◽  
...  
Keyword(s):  
Gene Expression ◽  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia ◽  
Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Cacna1a Gene ◽  
Induced Pluripotent

scholarly journals Autophagy Promoted the Degradation of Mutant ATXN3 in Neurally Differentiated Spinocerebellar Ataxia-3 Human Induced Pluripotent Stem Cells

2016 ◽  
Vol 2016 ◽  
pp. 1-11 ◽  
Author(s):  
Zhanhui Ou ◽  
Min Luo ◽  
Xiaohua Niu ◽  
Yuchang Chen ◽  
Yingjun Xie ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Spinocerebellar Ataxia ◽  
Pluripotent Stem Cells ◽  
Neural Differentiation ◽  
Embryonic Stem ◽  
Ips Cells ◽  
Induced Pluripotent ◽  
Spinocerebellar Ataxia 3

Spinocerebellar ataxia-3 (SCA3) is the most common dominant inherited ataxia worldwide and is caused by an unstable CAG trinucleotide expansion mutation within the ATXN3 gene, resulting in an expanded polyglutamine tract within the ATXN3 protein. Many in vitro studies have examined the role of autophagy in neurodegenerative disorders, including SCA3, using transfection models with expression of pathogenic proteins in normal cells. In the current study, we aimed to develop an improved model for studying SCA3 in vitro using patient-derived cells. The patient-derived iPS cells presented a phenotype similar to that of human embryonic stem cells and could be differentiated into neurons. Additionally, these cells expressed abnormal ATXN3 protein without changes in the CAG repeat length during culture for at least 35 passages as iPS cells, up to 3 passages as neural stem cells, and after 4 weeks of neural differentiation. Furthermore, we demonstrated that neural differentiation in these iPS cells was accompanied by autophagy and that rapamycin promoted autophagy through degradation of mutant ATXN3 proteins in neurally differentiated spinocerebellar ataxia-3 human induced pluripotent stem cells (p<0.05). In conclusion, patient-derived iPS cells are a good model for studying the mechanisms of SCA3 and may provide a tool for drug discovery in vitro.

scholarly journals Utilising Induced Pluripotent Stem Cells in Neurodegenerative Disease Research: Focus on Glia

2021 ◽  
Vol 22 (9) ◽  
pp. 4334
Author(s):  
Katrina Albert ◽  
Jonna Niskanen ◽  
Sara Kälvälä ◽  
Šárka Lehtonen
Keyword(s):  
Stem Cells ◽  
Neurodegenerative Diseases ◽  
Neurodegenerative Disease ◽  
Induced Pluripotent Stem Cells ◽  
Glial Cells ◽  
Pluripotent Stem Cells ◽  
Cell Types ◽  
Human Ipscs ◽  
Induced Pluripotent

Induced pluripotent stem cells (iPSCs) are a self-renewable pool of cells derived from an organism’s somatic cells. These can then be programmed to other cell types, including neurons. Use of iPSCs in research has been two-fold as they have been used for human disease modelling as well as for the possibility to generate new therapies. Particularly in complex human diseases, such as neurodegenerative diseases, iPSCs can give advantages over traditional animal models in that they more accurately represent the human genome. Additionally, patient-derived cells can be modified using gene editing technology and further transplanted to the brain. Glial cells have recently become important avenues of research in the field of neurodegenerative diseases, for example, in Alzheimer’s disease and Parkinson’s disease. This review focuses on using glial cells (astrocytes, microglia, and oligodendrocytes) derived from human iPSCs in order to give a better understanding of how these cells contribute to neurodegenerative disease pathology. Using glia iPSCs in in vitro cell culture, cerebral organoids, and intracranial transplantation may give us future insight into both more accurate models and disease-modifying therapies.

In vitro propagation and cardiac differentiation of canine induced pluripotent stem cells on carbon nanotube substrates

2021 ◽  
pp. 101571
Author(s):  
Mahalakshmi Natarajan ◽  
Purnima Singh ◽  
Tanmay Mondal ◽  
Kuldeep Kumar ◽  
Kinsuk Das ◽  
...  
Keyword(s):  
Stem Cells ◽  
Carbon Nanotube ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
In Vitro Propagation ◽  
Cardiac Differentiation ◽  
Induced Pluripotent
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