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Volume 50 Number 1
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Volume 49 Number 3

Research articles

ScienceAsia 49 (2023): 240-247 |doi: 10.2306/scienceasia1513-1874.2023.008

Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy

E-Wei Tana, Kek Heng Chuaa, Sherry Usun Jonesa, Lay Koon Tanb, Alexander Lochc,*, Boon Pin Keea,*

ABSTRACT:      Cardiomyopathy comprises a diverse group of diseases affecting the myocardium. The genetic composition is one of the major disease-defining factors of cardiomyopathies, with globally more than 100 genes implicated in this pathogenesis. Most genetic studies were performed in the Western populations, with only limited data available for the Asian populations. In this study, 152 cardiomyopathy patients (104 dilated cardiomyopathy and 48 hypertrophic cardiomyopathy) were recruited. A total of 20 genetic mutations previously reported in Caucasian populations in MYBPC3, MYH7, TNNT2 and TPM1 genes were examined via Tetra Primer Amplification-Refractory Mutation System Polymerase Chain Reaction approach. Of all subjects, only one patient with hypertrophic cardiomyopathy was found as heterozygous carrier of a point mutation (c.1208G>A) in the MYH7 gene. The remaining 19 mutations were not observed among the cardiomyopathy patients in this study. Our finding suggests a different genetic architecture of the Malaysian cardiomyopathy patients compared to the Caucasian populations. Therefore, a more comprehensive mutation study on the Malaysian cardiomyopathy patients is essential for better illustration of the genetic causes of cardiomyopathy in Malaysia.

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a Department of Biomedical Science, Faculty of Medicine, Universiti Malaya, Kuala Lumpur 50603 Malaysia
b National Heart Institute, Kuala Lumpur 50400 Malaysia
c Department of Medicine, Faculty of Medicine, Universiti Malaya, Kuala Lumpur 50603 Malaysia

* Corresponding author, E-mail: alexanderloch@gmx.de, bpkee@um.edu.my

Received 10 Mar 2022, Accepted 8 Oct 2022