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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314962 | PMC |
| http://dx.doi.org/10.1016/j.jacbts.2018.08.008 | DOI Listing |
Publication Analysis
Top Keywords
induced pluripotent
12
pluripotent stem
12
myosin heavy
8
heavy chain
8
stem cell-derived
8
cell-derived cardiomyocytes
8
novel adult-onset
4
adult-onset systolic
4
systolic cardiomyopathy
4
cardiomyopathy myh7
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!