scholarly journals Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication.

1997 ◽  
Vol 99 (5) ◽  
pp. 1010-1015 ◽  
Author(s):  
H Fujita ◽  
S Sugiura ◽  
S Momomura ◽  
M Omata ◽  
H Sugi ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Dictyostelium Discoideum ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Force Level ◽  
Prognostic Implication ◽  
Molecular Force

Abstract 366: Disease Phenotype Assessment Across a Library of iPSC-Derived Cardiomyocytes From Patient Cohorts Carrying Distinct Mutations for Familial Hypertrophic Cardiomyopathy

2015 ◽  
Vol 117 (suppl_1) ◽  
Author(s):  
Jason Tsai ◽  
Jason Lam ◽  
Veronica Sanchez-Freire ◽  
Rishali Gadkari ◽  
Maya Agarwal ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Induced Pluripotent Stem Cell ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Patient Specific ◽  
Multielectrode Array ◽  
Disease Phenotype ◽  
Disease Phenotypes ◽  
Distinct Disease ◽  
Induced Pluripotent

Familial hypertrophic cardiomyopathy (HCM) is the leading cause of sudden cardiac death in the young, and is the most common inherited heart defect affecting 1 in 500 individuals worldwide. Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) have been demonstrated to model aspects of HCM, but only one iPSC model has been reported for a single HCM mutation in one gene. Here we compare disease phenotypes across a library of patient-specific HCM iPSC-CMs carrying distinct mutations to assess the range of phenotypes that may present in iPSC-CMs derived from different patient cohorts. iPSCs were generated from three patient cohorts carrying known hereditary mutations for HCM in TNNI3, TNNT2, and MYH7 and family-matched controls. Disease phenotypes in patient-specific iPSC-CMs were modeled using immunostaining, Ca2+ imaging, multielectrode array, and video analysis of contractile motion. HCM iPSC-CMs displayed a range of disease phenotypes as assessed by cell size, Ca2+ homeostasis, electrophysiology, and contractile arrhythmia. Different HCM mutations resulted in distinct disease phenotype presentation. Importantly, identical mutations demonstrated similar readouts across multiple lines and clones whereas distinct mutations exhibited differential disease phenotypes. These findings indicate disease-specific iPSC-CMs present with a range of phenotypes for HCM that vary by specific mutation and that iPSC libraries are important for cellular characterization of diseases such as HCM. Figure 1. Derivation and disease phenotype modeling of iPSC-CMs generated from patients carrying distinct familial HCM mutations and family-matched controls.

scholarly journals Structural and Functional Characterization of cTnT in Familial Hypertrophic Cardiomyopathy

2009 ◽  
Vol 96 (3) ◽  
pp. 499a
Author(s):  
Rachel K. Moore ◽  
John Wilson ◽  
Pia Guinto ◽  
Michael Riegelhaupt ◽  
Gary Gerfen ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Functional Characterization ◽  
Familial Hypertrophic Cardiomyopathy
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