Molecular Genetic Basis of Hypertrophic Cardiomyopathy
2021年5月14日 · Christine Seidman and Jonathan Seidman identified the p.Arg403Glu (p.R403Q) mutation in the MYH7 gene, encoding sarcomere protein MYH7 as the first mutation for familial HCM. 7 Subsequently, over a dozen causal genes were identified, which led to a near complete elucidation of the molecular genetic basis of HCM in large families. 19–21 In ...
MYH7 in cardiomyopathy and skeletal muscle myopathy
2023年4月20日 · Here, we review the current understanding on MYH7 with the aim to better clarify how mutations in MYH7 affect the structure and physiologic function of sarcomere, thus resulting in cardiomyopathy and skeletal muscle myopathy.
Targeting the sarcomere in inherited cardiomyopathies
2022年3月18日 · Four small molecules that modulate the myosin motor protein in the cardiac sarcomere have shown great promise in the settings of HCM and DCM, regardless of the underlying genetic pathogenesis,...
MYH7 R453C induced cardiac remodelling via activating TGF …
2024年6月12日 · Hypertrophic cardiomyopathy (HCM) is a monogenic cardiac disorder commonly induced by sarcomere gene mutations. However, the mechanism for HCM is not well defined. Here, we generated transgenic MYH7 R453C and MYH6 R453C piglets and found both developed typical cardiac hypertrophy.
Identifying Sarcomere Gene Mutations in Hypertrophic Cardiomyopathy ...
2011年3月18日 · As such, MYH7 mutations appeared to reduce force production by the sarcomere, a result that implied that hypertrophic remodeling was a compensatory response to diminished cardiac performance.
Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly
2010年12月2日 · We performed mutational analysis of MYH7 in a cohort of 141 unrelated probands with Ebstein anomaly using both next generation sequencing and direct DNA sequencing. Mutations were identified in 8 of 141 probands (6%), the largest resequencing study of Ebstein anomaly so far.
MYH7-related myopathies: clinical, histopathological and imaging ...
2016年7月7日 · The MYH7 gene on chromosome 14 encodes slow/b-cardiac myosin heavy chain (MyHCI), a class II myosin expressed in slow, type 1 muscle fibers as well as in the heart ventricles. MyHCI is the molecular motor of muscle and forms the backbone of the sarcomere thick filaments [1].
Penetrance and Prognosis of MYH7 Variant ... - JACC: Heart Failure
In this multicenter cohort study, penetrance and major cardiomyopathy-related events (MCEs) were assessed in carriers of (likely) pathogenic MYH7 variants by using Kaplan-Meier curves and log-rank tests. Prognostic factors were evaluated …
Hypertrophic cardiomyopathy–associated mutations drive stromal ...
1 天前 · Similar to MYH7-variant CMTs, engineered tissues generated from MYBPC3t/+ hiPSC-CMs also exhibited the functional phenotypes of hypocontractility and reduced relaxation rate (Fig. 5, C to E, and fig. S9B). MYBPC3t/+ CMTs were more compact than WT CMTs (smaller width), while the length and thickness remained similar to WT CMTs (fig. S11, A to C).
A Family with Myh7 Mutation and Different Forms of …
2023年7月22日 · Background: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. In this study, we describe a variant in the MHY7 gene, segregating in a family having three different phenotypes of cardiomyopathies.
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