Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells

Kai Chun Yang; Astrid Breitbart; Willem J. De Lange; Peter Hofsteen; Akiko Futakuchi-Tsuchida; Joy Xu; Cody Schopf; Maria V. Razumova; Alex Jiao; Robert Boucek; Lil Pabon; Hans Reinecke; Deok Ho Kim; J. Carter Ralphe; Michael Regnier; Charles E. Murry

doi:10.1016/j.jacbts.2018.08.008

Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells

Kai Chun Yang, Astrid Breitbart, Willem J. De Lange, Peter Hofsteen, Akiko Futakuchi-Tsuchida, Joy Xu, Cody Schopf, Maria V. Razumova, Alex Jiao, Robert Boucek, Lil Pabon, Hans Reinecke, Deok Ho Kim, J. Carter Ralphe, Michael Regnier, Charles E. Murry

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Abstract

A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell–derived cardiomyocytes. The cardiomyopathic human induced pluripotent stem cell–derived cardiomyocytes exhibited reduced contractile function as single cells and engineered heart tissues, and genome-edited isogenic cells confirmed the pathogenic nature of the E848G mutation. Reduced contractility may result from impaired interaction between myosin heavy chain 7 and cardiac myosin binding protein C.

Original language	English (US)
Pages (from-to)	728-740
Number of pages	13
Journal	JACC: Basic to Translational Science
Volume	3
Issue number	6
DOIs	https://doi.org/10.1016/j.jacbts.2018.08.008
State	Published - Dec 2018
Externally published	Yes

Keywords

disease-modeling
engineered heart tissue
genetic cardiomyopathy
induced pluripotent stem cells

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

Access to Document

10.1016/j.jacbts.2018.08.008

Cite this

Yang, K. C., Breitbart, A., De Lange, W. J., Hofsteen, P., Futakuchi-Tsuchida, A., Xu, J., Schopf, C., Razumova, M. V., Jiao, A., Boucek, R., Pabon, L., Reinecke, H., Kim, D. H., Ralphe, J. C., Regnier, M., & Murry, C. E. (2018). Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells. JACC: Basic to Translational Science, 3(6), 728-740. https://doi.org/10.1016/j.jacbts.2018.08.008

Yang, KC, Breitbart, A, De Lange, WJ, Hofsteen, P, Futakuchi-Tsuchida, A, Xu, J, Schopf, C, Razumova, MV, Jiao, A, Boucek, R, Pabon, L, Reinecke, H, Kim, DH, Ralphe, JC, Regnier, M & Murry, CE 2018, 'Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells', JACC: Basic to Translational Science, vol. 3, no. 6, pp. 728-740. https://doi.org/10.1016/j.jacbts.2018.08.008

@article{f3732ce08e8a4ea3bcbdf65bb31a391b,

title = "Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells",

abstract = "A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell–derived cardiomyocytes. The cardiomyopathic human induced pluripotent stem cell–derived cardiomyocytes exhibited reduced contractile function as single cells and engineered heart tissues, and genome-edited isogenic cells confirmed the pathogenic nature of the E848G mutation. Reduced contractility may result from impaired interaction between myosin heavy chain 7 and cardiac myosin binding protein C.",

keywords = "disease-modeling, engineered heart tissue, genetic cardiomyopathy, induced pluripotent stem cells",

author = "Yang, {Kai Chun} and Astrid Breitbart and {De Lange}, {Willem J.} and Peter Hofsteen and Akiko Futakuchi-Tsuchida and Joy Xu and Cody Schopf and Razumova, {Maria V.} and Alex Jiao and Robert Boucek and Lil Pabon and Hans Reinecke and Kim, {Deok Ho} and Ralphe, {J. Carter} and Michael Regnier and Murry, {Charles E.}",

note = "Publisher Copyright: {\textcopyright} 2018 The Authors",

year = "2018",

month = dec,

doi = "10.1016/j.jacbts.2018.08.008",

language = "English (US)",

volume = "3",

pages = "728--740",

journal = "JACC: Basic to Translational Science",

issn = "2452-302X",

publisher = "Elsevier Inc.",

number = "6",

}

TY - JOUR

T1 - Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells

AU - Yang, Kai Chun

AU - Breitbart, Astrid

AU - De Lange, Willem J.

AU - Hofsteen, Peter

AU - Futakuchi-Tsuchida, Akiko

AU - Xu, Joy

AU - Schopf, Cody

AU - Razumova, Maria V.

AU - Jiao, Alex

AU - Boucek, Robert

AU - Pabon, Lil

AU - Reinecke, Hans

AU - Kim, Deok Ho

AU - Ralphe, J. Carter

AU - Regnier, Michael

AU - Murry, Charles E.

PY - 2018/12

Y1 - 2018/12

N2 - A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell–derived cardiomyocytes. The cardiomyopathic human induced pluripotent stem cell–derived cardiomyocytes exhibited reduced contractile function as single cells and engineered heart tissues, and genome-edited isogenic cells confirmed the pathogenic nature of the E848G mutation. Reduced contractility may result from impaired interaction between myosin heavy chain 7 and cardiac myosin binding protein C.

AB - A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell–derived cardiomyocytes. The cardiomyopathic human induced pluripotent stem cell–derived cardiomyocytes exhibited reduced contractile function as single cells and engineered heart tissues, and genome-edited isogenic cells confirmed the pathogenic nature of the E848G mutation. Reduced contractility may result from impaired interaction between myosin heavy chain 7 and cardiac myosin binding protein C.

KW - disease-modeling

KW - engineered heart tissue

KW - genetic cardiomyopathy

KW - induced pluripotent stem cells

UR - http://www.scopus.com/inward/record.url?scp=85059105431&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85059105431&partnerID=8YFLogxK

U2 - 10.1016/j.jacbts.2018.08.008

DO - 10.1016/j.jacbts.2018.08.008

M3 - Article

AN - SCOPUS:85059105431

SN - 2452-302X

VL - 3

SP - 728

EP - 740

JO - JACC: Basic to Translational Science

JF - JACC: Basic to Translational Science

IS - 6

ER -

Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this