CACNA1C gene mutation in Thai young adult with sudden unexplained death

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Jittiput Thitinilnithi
Worada Samosornsuk
Suranarong Srisuwan
Worawee Waiyawuth
Seksun Samosornsuk

Abstract

Sudden unexplained death syndrome (SUDS) is an unexpected natural death in young healthy adults, especially Southeastern Asian populations, wherein no severe diseases can be detected to explain death’s cause. Several studies confirmed that SUDS associated with genetically changed cardiac ion channels. However, CACNA1C mutations in SUDS are rarely reported in the Thai population. This study aimed to characterize CACNA1C gene mutation in Thai young adults who died with SUDS. Characteristics data of 32 SUDS cases in the Thai population were collected. Blood samples were collected from 27 males and 5 females of which categorized as an unexplained cause of death in a postmortem examination. Genomic DNA was extracted, amplified, and screened for nine variants mutation of CACNA1C gene, using pyrosequencing assay. Most cases were domiciled in the central region of Thailand. Men aged 19 - 39 years old (mean age 29.44 ± 5.59) is the most common SUDS cases. In a total of 32 cases, we detected 7 cases (21.9 %) with heterozygous A/G, c.720016 G > A within exon 44. The variation was defined as a missense mutation of p. R1880Q at C-terminus of α1C subunit of the L-type cardiac calcium channel. The heterozygous missense mutation of p. R1880Q of CACNA1C gene was identified in Thai SUDS. However, there is no evidence of studies about the effect of function and pathogenicity of CACNA1C-R1880Q. Further study is needed to clarify the role of this variant in the functional effect of pathogenesis in SUDS. 

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1.
Thitinilnithi J, Samosornsuk W, Srisuwan S, Waiyawuth W, Samosornsuk S. CACNA1C gene mutation in Thai young adult with sudden unexplained death. Arch AHS [Internet]. 2020 Dec. 29 [cited 2024 May 19];32(3):22-31. Available from: https://he01.tci-thaijo.org/index.php/ams/article/view/240555
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