6. Detection of mutations of cacna1c gene in patients with Brugada symptome
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Abstract
Brugada syndrome causes 4% - 12% of sudden deaths and 20% of deaths in patients with structurally normal hearts. The prevalence of the disease is 5 - 14/10,000 people, and it is common among people of Asian descent, especially in Southeast Asia, including Vietnam. The disease is caused by mutations that cause the loss or decrease in function of at least one of 23 related genes, which encode voltage-conducting ion channels in the heart muscle cell membranes. Among them, the CACNA1C gene of the cardiac calcium channel (Cav1.2) causes a mutation to lose calcium channel outflow. The objective was to identify genetic mutations on the CACNA1C gene. Subjects and methods: 50 patients diagnosed with Brugada syndrome at the Vietnam Heart Institute and the Heart Institute of Ho Chi Minh City were sequenced by the Sanger method. Results: The study identified 3/50 patients with mutations in the CACNA1C gene, with 3 types of mutations in the exon and intron. All 3/3 mutations are nucleotide substitution mutations, of which 1/3 have never been published before.
Article Details
Keywords
Brugada syndrome, CACNA1C, mutations
References
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