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[Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area]
Xin-Yun Chen1, Li Rao, Bin Zhou
1Department of Cardiology, West China Hospital, Sichuan University, Chengdu 610041, China.
Insights
Phospholamban (PLN) gene mutations were not found in patients with dilated cardiomyopathy (DCM) in Chengdu. This suggests PLN is not a common cause of DCM in this Chinese population.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Context:
- Dilated cardiomyopathy (DCM) is a significant cause of heart failure.
- The phospholamban (PLN) gene has been implicated as a potential genetic factor in DCM.
- Understanding the genetic basis of DCM is crucial for diagnosis and treatment.
Purpose:
- To investigate the role of phospholamban (PLN) gene mutations in Chinese patients with dilated cardiomyopathy (DCM) in Chengdu.
- To determine if PLN is a common genetic cause of DCM in this specific population.
Summary:
- DNA from 89 DCM patients and 110 healthy controls was analyzed for PLN mutations using PCR-SSCP and nucleotide sequencing.
- No C-->T missense mutation at nucleotide 25 or T-->G missense mutation at nucleotide 116 in the PLN gene was identified in either group.
- The study found no PLN gene mutations in the studied DCM patients from Chengdu.
Impact:
- This research indicates that PLN gene mutations are unlikely to be a frequent cause of DCM among the Chinese population in Chengdu.
- The findings contribute to the understanding of DCM's genetic landscape in diverse ethnic groups.
- Further research may be needed to explore other genetic factors contributing to DCM in this population.
Objective:
To find out whether phospholamban (PLN) is the virulence gene of dilated cardiomyopathy (DCM) in the Chinese of Chengdu.
Methods:
DNA was isolated from 89 hospitalized unrelated patients with DCM and 110 healthy Chinese Hans as controls. The PLN mutations was screened by polymerase chain reaction (PCR)-single strand conformation polymorphisms (SSCP) and nucleotide sequence analysis.
Results:
In polyacrylamide gel lectrophoresis, no abnormal conformer was found in the two groups. In DNA sequence, no C --> T missense mutation at nucleotide 25 was identified in the DCM patients and the controls. Meanwhile, T --> G missense mutation at nucleotide 116 was not found in the affected individuals and in the controls.
Conclusion:
No PLN gene mutation was found in patients with DCM in Chengdu. This result indicated that PLN gene mutation may not be a common cause for DCM in the Chinese population in Chengdu.
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