en
Scientific article
English

Increased CPA6 promoter methylation in focal epilepsy and in febrile seizures

Published inEpilepsy research, vol. 108, no. 1, p. 144-148
Publication date2014-01
First online date2013-10-24
Abstract

Focal epilepsy (FE) is one of the most common forms of adult epilepsy and is usually regarded as a multifactorial disorder. Febrile seizures (FS) often appear during childhood in a subtype of FE patients, i.e. with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS). FS are the most common human convulsive event associated with fever. Genetic evidences for FS have suggested a complex mode of inheritance. Until now, to investigate genes at the genomic level, linkage analysis of familial forms and association studies have been performed, but nothing conclusive has been clearly related to FE and FS. As complex disorders, environmental factors might play a crucial role through epigenetic modification of key candidate genes such as CPA6, which encodes Carboxypeptidase A6, an extracellular protein. Therefore, we assessed DNA methylation in promoter of CPA6. In 186 FE patients and 92 FS patients compared to 93 healthy controls and 42 treated controls with antiepileptic drugs (AEDs), we found significant higher levels of methylation for epileptic patients. Methylation status were 3.4% (±3.2%) for FE cases and 4.3% (±3.5%) for FS cases, whereas healthy individuals and treated controls with AEDs showed a level of 0.8% (±2.9%) and 1.5% (±3.9%), respectively (p≤0.001 for all comparisons). These results let growing evidence for DNA methylation involvment in FE and FS.

eng
Keywords
  • CPA6
  • DNA methylation
  • Febrile seizures
  • Focal epilepsy
  • Adult
  • Base Sequence
  • Carboxypeptidases A / genetics
  • Carboxypeptidases A / metabolism
  • Cohort Studies
  • DNA Methylation / genetics
  • Epilepsies, Partial / diagnosis
  • Epilepsies, Partial / genetics
  • Epilepsies, Partial / metabolism
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Promoter Regions, Genetic / genetics
  • Seizures, Febrile / diagnosis
  • Seizures, Febrile / genetics
  • Seizures, Febrile / metabolism
  • Young Adult
Citation (ISO format)
BELHEDI, Nejla et al. Increased <i>CPA6 </i>promoter methylation in focal epilepsy and in febrile seizures. In: Epilepsy research, 2014, vol. 108, n° 1, p. 144–148. doi: 10.1016/j.eplepsyres.2013.10.007
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
ISSN of the journal0920-1211
113views
0downloads

Technical informations

Creation07/08/2022 6:39:00 AM
First validation07/08/2022 6:39:00 AM
Update time03/16/2023 6:57:41 AM
Status update03/16/2023 6:57:41 AM
Last indexation05/06/2024 11:10:50 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack