Abstract
Objectives
Acute encephalopathy is an acute brain dysfunction after preceding infection, consisting
of multiple syndromes. Some syndromes, such as acute encephalopathy with biphasic
seizures and late reduced diffusion (AESD), are severe with poor outcome, whereas
others, such as clinically mild encephalitis/encephalopathy with reversible splenial
lesion (MERS), are mild with favorable outcome. Previous study reported the association
of the thermolabile polymorphism in Carnitine Palmitoyltransferase 2 (CPT2) gene and severe syndromes of acute encephalopathy. To further explore the pathogenetic
role of CPT2 in acute encephalopathy, we conducted a case-control association study
of a typical thermolabile CPT2 polymorphism, rs2229291, in 416 patients of acute encephalopathy, including both
severe and mild syndromes.
Methods
The case cohort consisted of 416 patients, including AESD, MERS, and other syndromes.
The control subjects were 100 healthy Japanese. rs2229291 was genotyped by Sanger
sequencing. Genetic distribution was compared between the patients and controls using
Cochran-Armitage trend test.
Results
Minor allele frequency of rs2229291 was significantly higher in AESD (p = 0.044), MERS (p = 0.015) and entire acute encephalopathy (p = 0.044) compared to the controls. The polymorphism showed no significant association
with influenza virus, or with outcome.
Conclusions
This study provided evidence that CPT2 is a susceptibility gene for overall acute encephalopathy, including both severe
and mild syndromes, and suggested that impairment of mitochondrial metabolism is common
to various syndromes of acute encephalopathy.
Keywords
- Carnitine palmitoyltransferase 2
- Thermolability
- Energy failure
- Acute encephalopathy
- Susceptibility gene
- Predisposing factor
- Genetic risk factor
- Clinically mild encephalitis/encephalopathy with reversible splenial lesion
- Acute encephalopathy with biphasic seizures and late reduced diffusion
- Acute necrotizing encephalopathy
- Acute encephalitis with refractory
- Repetitive partial seizures/febrile infection-related epileptic syndrome
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Article info
Publication history
Published online: July 24, 2019
Accepted:
July 10,
2019
Received in revised form:
June 10,
2019
Received:
March 28,
2019
Identification
Copyright
© 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.