Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy

Abstract Rationale Carnitine palmitoyltransferase (CPT) II is one of a pivotal enzyme in mitochondrial fatty acid oxidation, which is essential for energy production during simultaneous glucose sparing and a requirement for major energy supply, such as prolonged fasting or exercise. When infants req...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2014-06, Vol.36 (6), p.479-483
Main Authors: Yamamoto, Takuma, Tanaka, Hidekazu, Emoto, Yuko, Umehara, Takahiro, Fukahori, Yuki, Kuriu, Yukiko, Matoba, Ryoji, Ikematsu, Kazuya
Format: Article
Language:English
Subjects:
Carnitine O-Palmitoyltransferase - genetics
Female
Genetic Predisposition to Disease
Genotyping Techniques
Haplotypes
Humans
Infant
Infant, Newborn
Male
Neurology
Odds Ratio
Polymorphism, Single Nucleotide
Retrospective Studies
Risk Factors
Sudden Infant Death - genetics
Sudis
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Summary:Abstract Rationale Carnitine palmitoyltransferase (CPT) II is one of a pivotal enzyme in mitochondrial fatty acid oxidation, which is essential for energy production during simultaneous glucose sparing and a requirement for major energy supply, such as prolonged fasting or exercise. When infants require more energy than provided by the glycolytic system, they rely on the mitochondrial fatty acid oxidation pathway. Mutations of the CPT2 gene have been reported to cause sudden unexpected death in infancy (SUDI). A thermolabile phenotype of a CPT2 polymorphism (F352C) has been recently reported to reduce CPT II enzyme activity. The F352C variant results in energy crisis at high temperature and is suspected as a risk factor for acute encephalopathy. However, a relationship between CPT2 gene polymorphism and SUDI has not been described. Methods Single nucleotide polymorphisms of the CPT2 gene were investigated among 54 SUDI cases and 200 healthy volunteers. Results The frequency of the C allele was significantly higher in the SUDI group than in the control group [25.0% vs 16.0%, odds ratio (OR) = 1.75, 95% confidence interval (CI) = 1.05–2.92, p = 0.030). The frequency of the F352C homozygote was significantly higher in the SUDI group than in control group (11.1% vs 3.5%, OR = 3.45, 95% CI = 1.11–10.73, p = 0.036). Conclusion The F352C CPT2 variant might be a genetic risk factor for SUDI.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2013.07.011