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Updated: Jun 10, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
The MYH7 p.R787H mutation causes hypertrophic cardiomyopathy in two unrelated families
G Purushotham1, K Madhumohan, Mohammad Anwaruddin
1Laboratory of Molecular Oncology;
Insights
A specific mutation in the MYH7 gene, p.R787H, was found in Indian families with familial hypertrophic cardiomyopathy (FHC). This mutation affects protein binding but does not appear to be lethal, though symptoms vary.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- Familial hypertrophic cardiomyopathy (FHC) is a genetic heart condition caused by mutations in sarcomere protein genes.
- FHC displays significant genetic diversity, necessitating identification of mutations linked to severe outcomes.
- This study focuses on prevalent mutations within the Indian population.
Purpose of the Study:
- To identify disease-causing mutations in familial hypertrophic cardiomyopathy (FHC) within the Indian population.
- To investigate the impact of identified mutations on protein function and clinical presentation.
Main Methods:
- Echocardiography, clinical assessment, and family history were used for FHC diagnosis.
- Polymerase chain reaction (PCR) and DNA sequencing were employed to identify specific gene mutations.
Main Results:
- The p.R787H mutation in the MYH7 gene was identified in two FHC families.
- Structural analysis indicated that the p.R787H mutation impairs the binding of the mutant protein to the myosin essential light chain.
Conclusions:
- The p.R787H mutation leads to variable clinical symptoms in affected individuals.
- Modifier genes and environmental factors likely contribute to symptom variability.
- The p.R787H mutation is not associated with lethality in FHC patients.
Background:
Familial hypertrophic cardiomyopathy (FHC) is a Mendelian disorder usually caused by mutations in any one of more than 12 genes, most of which encode sarcomere proteins. The disease exhibits extensive genetic heterogeneity, and it is important to identify mutations that result in adverse symptoms and/or lethality in affected individuals. An analysis of disease-causing mutations has been initiated in the Indian population to determine prevalent mutations.
Methods:
FHC was detected using echocardiography and by analysis of clinical symptoms and family history. The disease-causing mutation was identified using polymerase chain reaction DNA sequencing.
Results:
The p.R787H mutation was identified in the MYH7 gene in two FHC families. Sequence and structure analysis suggested impaired binding of the mutant protein to the myosin essential light chain.
Conclusions:
Although the mutation results in variable clinical symptoms in the affected individuals, probably owing to the effect of modifier genes and/or environmental factors, it does not appear to be a lethal mutation.
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