Cover Image

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

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,...

Full description

Saved in:
Bibliographic Details
Main Authors: Tan, E-Wei, Chua, Kek Heng, Jones, Sherry Usun, Tan, Lay Koon, Loch, Alexander, Kee, Boon Pin
Format: Article
Published: Science Society of Thailand 2023
Subjects:
RC Internal medicine
Online Access:http://eprints.um.edu.my/38374/
Tags: Add Tag
No Tags, Be the first to tag this record!
id my.um.eprints.38374
record_format eprints
spelling my.um.eprints.383742023-11-27T08:14:33Z http://eprints.um.edu.my/38374/ Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy Tan, E-Wei Chua, Kek Heng Jones, Sherry Usun Tan, Lay Koon Loch, Alexander Kee, Boon Pin RC Internal medicine 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. Science Society of Thailand 2023-04 Article PeerReviewed Tan, E-Wei and Chua, Kek Heng and Jones, Sherry Usun and Tan, Lay Koon and Loch, Alexander and Kee, Boon Pin (2023) Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy. Science Asia, 49 (2). ISSN 1513-1874, DOI https://doi.org/10.2306/scienceasia1513-1874.2023.008 <https://doi.org/10.2306/scienceasia1513-1874.2023.008>. 10.2306/scienceasia1513-1874.2023.008
institution Universiti Malaya
building UM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaya
content_source UM Research Repository
url_provider http://eprints.um.edu.my/
topic RC Internal medicine
spellingShingle RC Internal medicine
Tan, E-Wei
Chua, Kek Heng
Jones, Sherry Usun
Tan, Lay Koon
Loch, Alexander
Kee, Boon Pin
Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy
description 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.
format Article
author Tan, E-Wei
Chua, Kek Heng
Jones, Sherry Usun
Tan, Lay Koon
Loch, Alexander
Kee, Boon Pin
author_facet Tan, E-Wei
Chua, Kek Heng
Jones, Sherry Usun
Tan, Lay Koon
Loch, Alexander
Kee, Boon Pin
author_sort Tan, E-Wei
title Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy
title_short Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy
title_full Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy
title_fullStr Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy
title_full_unstemmed Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy
title_sort genetic investigation of point mutations in sarcomeric genes in malaysian patients with cardiomyopathy
publisher Science Society of Thailand
publishDate 2023
url http://eprints.um.edu.my/38374/
_version_ 1783876663692492800
score 13.211869

Similar Items