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.
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.
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.
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.
- Carnitine palmitoyltransferase 2
- 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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Published online: July 24, 2019
Accepted: July 10, 2019
Received in revised form: June 10, 2019
Received: March 28, 2019
© 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.