Heat stroke related to the use of topiramate. The importance of prevention

Cacho, Mónica; Grande, J. Pareja; Jiménez, Mora; Latorre, José Fidel; Ramírez, Natalia Bejarano; Oliva, Castejón

doi:10.1016/j.anpede.2013.10.010

Cited by 2 publications

(1 citation statement)

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“…Heat stroke usually occurs in tropic regions or during hot climate and heat is often attributed as the causative factor [18,19] . Additionally, genetic susceptibility has also been reported for heat stroke [20,21] , indicating the involvement of genetic background in heat stroke.…”

Section: Discussionmentioning

confidence: 99%

An Association Study of CASQ1 Gene Polymorphisms and Heat Stroke

Lü

Wang²,

2014

Genomics, Proteomics &Amp; Bioinformatics

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Although molecular mechanisms of heat stroke under physiological and pathological conditions have not yet been elucidated, a novel disease-associated gene encoding a calcium-binding protein, calsequestrin-1 (CASQ1), was suggested relevant based on results from a transgenic murine model. Here, we show the association between single nucleotide polymorphisms (SNPs) of CASQ1 and physiological parameters for heat stroke from a study involving 150 patients. Pooled DNA from heat stroke patients were subjected to sequencing and 3 SNPs were identified. Genotypes were assigned for all patients according to g. 175A>G, one SNP which leads to a nonsynonymous substitution (N59D) in the first exon of human CASQ1 gene. We analyzed the genotypic data with a linear model based on significance scores between SNP (175A>G) and heat stroke parameters. As a result, we found a significant association between SNP A175G and heat stroke (P < 0.05). Further bioinformatics analysis of the 1-Mb flanking sequence revealed the presence of two genes that encode DDB1 and CUL4 associated factor 8 (DCAF8), and peroxisomal biogenesis factor 19 (PEX19), respectively, which might be functionally related to CASQ1. Our results showed that the blood calcium of patients with allele D increased significantly, compared to patients with allele N (P < 0.05), which may result from the decreased calcium in muscle, suggesting that N59D in CASQ1 might account for the dysfunction of CASQ1 in calcium regulation during heat stroke.

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Section: Discussionmentioning

confidence: 99%