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Telomere shortening is a hallmark of genetic cardiomyopathies

Alex Chia Yu Chang, Andrew Chia Hao Chang, Anna Kirillova, Koki Sasagawa, Willis Su, Gerhard Weber, Jue Lin, Vittavat Termglinchan, Ioannis Karakikes, Timon Seeger, Alexandra Dainis, John Travis Hinson, Jonathan G. Seidman, Christine E. Seidman, John Day

Proceedings of the National Academy of Sciences · 2018 · ▲ 91 citations

Telomere attrition Stem-cell exhaustion Cell culture / in vitro Human In vitro

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Abstract

Quantitative FISH (Q-FISH) of single cells revealed that telomeres were significantly reduced by 26% in HCM and 40% in DCM patient CMs in fixed tissue sections compared with CMs from age- and sex-matched healthy controls. In the cardiac tissues of the same patients, telomere shortening was not evident in vascular smooth muscle cells that do not express or require the contractile proteins, an important control. Telomere shortening was recapitulated in DCM and HCM CMs differentiated from patient-derived human-induced pluripotent stem cells (hiPSCs) measured by two independent assays. This study reveals telomere shortening as a hallmark of genetic HCM and DCM and demonstrates that this shortening can be modeled in vitro by using the hiPSC platform, enabling drug discovery.

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Provenance

Source: OpenAlex
DOI: 10.1073/pnas.1714538115
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Fetched: 2026-10-26 MST

Cite this

APA

Chang, A.C.Y., Chang, A.C.H., Kirillova, A., Sasagawa, K., Su, W., Weber, G., Lin, J., Termglinchan, V., Karakikes, I., Seeger, T., Dainis, A., Hinson, J.T., Seidman, J.G., Seidman, C.E., Day, J., Ashley, E.A., Wu, J.C., & Blau, H.M. (2018). Telomere shortening is a hallmark of genetic cardiomyopathies. <em>Proceedings of the National Academy of Sciences</em>. https://doi.org/10.1073/pnas.1714538115

Vancouver

Chang ACY, Chang ACH, Kirillova A, Sasagawa K, Su W, Weber G, et al. Telomere shortening is a hallmark of genetic cardiomyopathies. Proceedings of the National Academy of Sciences. 2018. doi:10.1073/pnas.1714538115.

BibTeX

@article{alex2018Telome, title = {Telomere shortening is a hallmark of genetic cardiomyopathies}, author = {Alex Chia Yu Chang and Andrew Chia Hao Chang and Anna Kirillova and Koki Sasagawa and Willis Su and Gerhard Weber and Jue Lin and Vittavat Termglinchan and Ioannis Karakikes and Timon Seeger and Alexandra Dainis and John Travis Hinson and Jonathan G. Seidman and Christine E. Seidman and John Day and Euan Angus Ashley and Joseph C. Wu and Helen M. Blau}, journal = {Proceedings of the National Academy of Sciences}, year = {2018}, doi = {10.1073/pnas.1714538115}, }