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Gene mutations in adult Japanese patients with dilated cardiomyopathy
Masami Shimizu1, Hidekazu Ino, Toshihiko Yasuda
1Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, Japan. shimizu@med.kanazawa-u.ac.jp
Insights
Genetic mutations in sarcomeric or cytoskeletal proteins are infrequent causes of dilated cardiomyopathy (DCM) in Japan. Screening older DCM patients for MYBPC3 and male DCM patients for dystrophin mutations is recommended.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetic Basis of Heart Disease
Background:
- Dilated cardiomyopathy (DCM) can be linked to mutations in genes encoding sarcomeric or cytoskeletal proteins.
- The prevalence of these specific genetic mutations in Japanese DCM patients is not well-established.
Purpose of the Study:
- To investigate the prevalence of mutations in key sarcomeric and cytoskeletal genes in Japanese adult patients with DCM.
- To identify specific gene mutations associated with DCM in the Japanese population.
Main Methods:
- Screening of 99 unrelated adult DCM patients (27 familial, 72 sporadic) for mutations in 11 specified genes.
- Analysis included genes such as MYBPC3, dystrophin, cardiac actin, tropomyosin, and troponin subunits.
- Genetic screening focused on identifying mutations involving amino acid changes.
Main Results:
- A MYBPC3 mutation (R820Q) was identified in one elderly patient.
- Dystrophin gene mutations were found in 3 male DCM patients (4.4% prevalence in males).
- No mutations were detected in the other screened genes.
Conclusions:
- Mutations in sarcomeric or cytoskeletal genes are rare causes of DCM in adult Japanese patients.
- Consider screening elderly DCM patients for MYBPC3 mutations.
- Recommend screening male patients with familial DCM for dystrophin mutations.
Background:
Some patients with dilated cardiomyopathy (DCM) have mutations of the genes that encode sarcomeric or cytoskeletal proteins of cardiomyocytes, but the prevalence of these mutations in Japan remains unclear.
Methods And Results:
A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, alpha cardiac actin, alpha tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C. A mutation (R820Q) in MYBPC3 was found in an aged patient. In addition, dystrophin mutations were identified in 3 male patients (2 with exon 45-48 deletion and 1 with exon 48-52 deletion). The prevalence of dystrophin mutations in male patients with DCM was 4.4% (3 of 68). No mutations involving amino acid changes were identified in the other genes.
Conclusions:
Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCM patients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations.
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