Myosin Heavy Chain 7, Cardiac Muscle, beta Proteins (MYH7)

Human Myosin Heavy Chain 7, Cardiac Muscle, beta (MYH7) interaction partners

1. Hypertrophic cardiomyopathy mutations located at the myosin head-tail and head-head interfaces of a folded-back sequestered state referred to as the interacting heads motif lead to a significant increase in the number of heads functionally accessible for interaction with actin.

2. Hypertrophic cardiomyopathy patients with LP/P variation in the MYH7 gene may be at a higher risk of developing atrial fibrillation than those with variation in other sarcomeric genes.

3. A total of 98 of 155 gene-tested patients carried a non-benign variant. The primary affected gene was MYH7 in 35% (MYH7+) and MYBPC3 in 49% (MYBPC3+). MYH7+ patients had earlier disease onset and higher risk of major adverse cardiac events (MACE)

4. A heterozygous missense rare variant in MYH7, resulting in an amino acid change from aspartic acid to valine at position 333, was identified in a double-chambered left ventricle pedigree.

5. findings therefore strongly indicate that apart from mutation-specific mechanisms, also non-HCM associated allelic-mRNA expression regulation may account for the allelic imbalance of the MYH7 gene in HCM-patients.

6. Molecular dynamics simulations demonstrated that both A1603P and K1617del mutations affected the structure of MYH7, with A1603P mutation having a smaller effect compared to K1617del. Taken together, it seems likely that the MPD-1 mutations destabilize the coiled coil, resulting in aberrant myosin packing in thick filaments in muscle sarcomeres, providing a potential mechanism for Laing Early-Onset Distal Myopathy.

7. Muscle imaging findings in patients with axial involvement provide significant clues permitting the distinction between MYH7- related myopathies

8. Asp554Tyr mutation of the MYH7 gene are associated with the hypertrophic cardiomyopathy in the Chinese pedigree.

9. This study functionally characterized the motor domains of five Dilated cardiomyopathy - causing mutations in human beta-cardiac myosin, MYH7. Kinetic analyses of the individual events in the ATPase cycle revealed that each mutation alters different steps in this cycle.

10. Of the 52 hypertrophic cardiomyopathy patients 12 (23.1%) had MYH7 variants.

11. A family that demonstrates the diverse HCM phenotypes associated with a single MYH7 mutation.

12. Mutation in MYH7 was identified as Restrictive Cardiomyopathy - causing mutation.

13. MYH7-V878A and CACNA1C-A1594V mutations were detected in a Chinese Family with Hypertrophic Cardiomyopathy. Among those with only the MYH7-V878A mutation, subject III-7 showed abnormal ECG recordings, asymmetric septal hypertrophy, and myocardial fibrosis, and subjects II-13 and III-15 showed some abnormal repolarization, borderline LV wall thickness, and normal cardiac magnetic resonance (CMR) findings.

14. Asn391Thr mutation of MYH7 is a malignant mutation for hypertrophic cardiomyopathy and that mutation carriers should get effective treatment to prevent sudden death.

15. MYBPC3 mutation carriers had a high frequency of ventricular arrhythmia and syncope. An absence of family history of sudden death (SD) and past history of syncope are useful prognostic factors in patients with hypertrophic cardiomyopathy. MYH7 and MYBPC3 mutations did not significantly influence prognosis compared to non-carriers. The patients with the MYBPC3 mutation should be closely followed for the possibility of SD.

16. Five of the 19 patients (26.3%) had either a pathogenic variant or a likely pathogenic variant in MYBPC3 (n=1), MYH7 (n=1), RYR2 (n=2), or TNNT2 (n=1). All five variants were missense variants that have been reported previously in patients with channelopathies or cardiomyopathies

17. Double MYH7 CTTNA3 heterozygotes showed a variable clinical expression of arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. One carrier of double mutations in CTTNA3 and MYH7 genes did not fulfill the current diagnostic criteria for cardiomyopathy.

18. Data provide evidence that MYH7 mutations contributed to 24.4% MYBPC3 mutations of hypertrophic cardiomyopathy (HCM) cases, that MYBPC3 constitute the preeminent cause of HCM and that both mutations are phenotypically indistinguishable.

19. Digenic inheritance of two novel variants in TNNT2 and MYH7 is associated with a severe form of dilated cardiomyopathy.

20. MYH7-V878A is a hot spot among ethnic Han Chinese with a high penetrance.

Cow (Bovine) Myosin Heavy Chain 7, Cardiac Muscle, beta (MYH7) interaction partners

1. Tm affects the conformation of actin so as to increase the area of hydrophobic interaction between actin and myosin molecules

Pig (Porcine) Myosin Heavy Chain 7, Cardiac Muscle, beta (MYH7) interaction partners

1. Akirin2 siRNA abolished arginine-induced upregulation of MyHC I.

2. Myosin regulatory light chain phosphorylation enhances cardiac beta-myosin in vitro motility under load.

3. Mutation analysis of MYH7 gene revealed an in-frame insertion within exon 30 of MYH7 which was perfectly associated with the disease phenotype and confirmed the dominant inheritance.

Mouse (Murine) Myosin Heavy Chain 7, Cardiac Muscle, beta (MYH7) interaction partners

1. These data demonstrate functional cooperation between Sox6 and Nfix in regulating MyHC-I expression during prenatal muscle development.[MyHC-1]

2. Male/female Myh7 mutant mice display sex dimorphic crossbridge kinetics accompanied by sex- and hypertrophic cardiomyopathy-dependent cardiac remodeling at the morphometric, histological, and cellular level.

3. The promoter regions of the SERCA-2A and beta-MHC genes, Atp2a2 and Myh7, respectively in murine hearts after one or eight weeks of pressure overload induced by transverse aortic constriction, were evaluated.

4. Foxo1 has important roles in promoting diabetic cardiomyopathy and controls beta-MHC expression in the development of cardiac dysfunction.

5. Transgenic mouse alpha- and beta-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences.

6. Cooperative/allosteric effects on actomyosin crossbridge recruitment dynamics are increased by beta-MHC.

7. Reexpression of bMHC is associated at the bMHC promoter with increased H3ac but not H3K4me3.

8. Metabolic and myosin isoform gene expression switch in sepsis-induced myocardial depression is inducible nitric oxide synthase-dependent.

9. residues situated within or close to the actin-binding interface of the myosin head influence actin binding and thereby modulate actin-activated ATPase activity

10. Simultaneous defects in MHC7 & TnI accelerate onset & progression of familial hypertrophic cardiomyopathy. Compared with single-mutant models, double-mutant mice develop severe disease & premature death, progressing directly to a dilated phenotype.

11. the functional consequences of the mutation are fundamentally changed depending upon the context of the cardiac MHC isoform.