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

Takuma Yamamoto1, Hidekazu Tanaka2, Yuko Emoto3

  • 1Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, Japan; Department of Legal Medicine, Osaka University Graduate School of Medicine, Japan.

Brain & Development
|August 24, 2013
PubMed

Insights

The CPT2 gene F352C variant may increase the risk of sudden unexpected death in infancy (SUDI). This genetic factor impacts carnitine palmitoyltransferase II enzyme activity, crucial for infant energy production.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Carnitine palmitoyltransferase (CPT) II is vital for mitochondrial fatty acid oxidation and energy production, especially during fasting or exercise.
  • Infants rely on this pathway for energy when the glycolytic system is insufficient.
  • CPT2 gene mutations are linked to sudden unexpected death in infancy (SUDI).

Purpose of the Study:

  • To investigate the association between CPT2 gene single nucleotide polymorphisms (SNPs) and SUDI.
  • To determine if the F352C CPT2 variant is a genetic risk factor for SUDI.

Main Methods:

  • Genotyping of CPT2 gene SNPs was performed.
  • The study included 54 SUDI cases and 200 healthy volunteers.

Main Results:

  • The C allele frequency was significantly higher in the SUDI group (25.0%) compared to controls (16.0%).
  • The F352C homozygote frequency was also significantly higher in the SUDI group (11.1%) versus controls (3.5%).

Conclusions:

  • The F352C CPT2 variant is a potential genetic risk factor for SUDI.
  • This polymorphism may lead to reduced CPT II enzyme activity, causing energy crises in infants.
Abstract

Keywords:
Carnitine palmitoyltransferase IIMetabolic crisisPolymorphismSudden unexpected death in infancy

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