Imperial College London

DrGaborFoldes

Faculty of MedicineNational Heart & Lung Institute

Research Fellow
 
 
 
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Contact

 

g.foldes

 
 
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Location

 

ICTEM buildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Jacquet:2015:10.1371/journal.pone.0126860,
author = {Jacquet, L and Neueder, A and Földes, G and Karagiannis, P and Hobbs, C and Jolinon, N and Mioulane, M and Sakai, T and Harding, SE and Ilic, D},
doi = {10.1371/journal.pone.0126860},
journal = {PLOS One},
pages = {e0126860--e0126860},
title = {Three Huntington's Disease Specific Mutation-Carrying Human Embryonic Stem Cell Lines Have Stable Number of CAG Repeats upon In Vitro Differentiation into Cardiomyocytes.},
url = {http://dx.doi.org/10.1371/journal.pone.0126860},
volume = {10},
year = {2015}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - Huntington disease (HD; OMIM 143100), a progressive neurodegenerative disorder, is caused by an expanded trinucleotide CAG (polyQ) motif in the HTT gene. Cardiovascular symptoms, often present in early stage HD patients, are, in general, ascribed to dysautonomia. However, cardio-specific expression of polyQ peptides caused pathological response in murine models, suggesting the presence of a nervous system-independent heart phenotype in HD patients. A positive correlation between the CAG repeat size and severity of symptoms observed in HD patients has also been observed in in vitro HD cellular models. Here, we test the suitability of human embryonic stem cell (hESC) lines carrying HD-specific mutation as in vitro models for understanding molecular mechanisms of cardiac pathology seen in HD patients. We have differentiated three HD-hESC lines into cardiomyocytes and investigated CAG stability up to 60 days after starting differentiation. To assess CAG stability in other tissues, the lines were also subjected to in vivo differentiation into teratomas for 10 weeks. Neither directed differentiation into cardiomyocytes in vitro nor in vivo differentiation into teratomas, rich in immature neuronal tissue, led to an increase in the number of CAG repeats. Although the CAG stability might be cell line-dependent, induced pluripotent stem cells generated from patients with larger numbers of CAG repeats could have an advantage as a research tool for understanding cardiac symptoms of HD patients.
AU - Jacquet,L
AU - Neueder,A
AU - Földes,G
AU - Karagiannis,P
AU - Hobbs,C
AU - Jolinon,N
AU - Mioulane,M
AU - Sakai,T
AU - Harding,SE
AU - Ilic,D
DO - 10.1371/journal.pone.0126860
EP - 0126860
PY - 2015///
SN - 1932-6203
SP - 0126860
TI - Three Huntington's Disease Specific Mutation-Carrying Human Embryonic Stem Cell Lines Have Stable Number of CAG Repeats upon In Vitro Differentiation into Cardiomyocytes.
T2 - PLOS One
UR - http://dx.doi.org/10.1371/journal.pone.0126860
UR - http://hdl.handle.net/10044/1/23362
VL - 10
ER -