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American Association for the Advancement of Science, Science, 6251(349), p. 982-986, 2015

DOI: 10.1126/science.aaa5458

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Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

Journal article published in 2015 by John T. Hinson, Anant Chopra, Navid Nafissi, William J. Polacheck ORCID, Craig C. Benson, Sandra Swist, Joshua Gorham, Luhan Yang, Sebastian Schafer ORCID, Calvin C. Sheng, Alireza Haghighi, Jason Homsy, Norbert Hubner, George Church, Stuart A. Cook and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

A giant disruption of the heart Certain forms of heart failure originate from genetic mutations. Understanding how the culprit mutant proteins alter normal heart function could lead to more effective treatments. One candidate is the giant protein tintin, which is mutated in a subset of patients with dilated cardiomyopathy. Through a combination of patient-derived stem cells, tissue engineering, and gene editing, Hinson et al. found that disease-associated titin mutations disrupt the function of the contractile unit in heart muscle. As a result, the heart does not respond properly to mechanical and other forms of stress. Science , this issue p. 982