Apolipoprotein E isoforms and susceptibility to genetic generalized epilepsies

Background: Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE e4 is an isoform of ApoE with altered function, and was previously associated with early onset epilepsy and refractoriness, both in animal models and in patients with focal epilepsies. There is a limited knowledge on ApoE’s role in Genetic Generalized Epilepsies (GGE). Aim: To determine if ApoE isoforms are risk factors for GGE development. Methods: A group of 337 GGE patients (193 F, 144 M, 33.6 ± 14.2 years) was compared with a group of 342 healthy individuals in a case-control genetic association study. ApoE genotyping was performed using PCR-RFLP. Results: The genotypic frequency of ApoE e3/e2 was lower in GGE patients relative to controls (6.5% in GGE vs. 11.7% in controls, p = 0.019, OR (95% CI) = 0.53 (0.305–0.905). No associations with other clinical data such as photosensitivity or age at disease onset were observed. Conclusion: Our results show that ApoE e3/e2 genotype may be a protective factor for GGE development. There is evidence that this genotype could be neuroprotective, preventing oxidative damage and promoting neuronal survival. Although replication studies are warranted, our data suggest that ApoE isoforms have a role in epileptogenic mechanisms regardless of the specific epileptic manifestations.

Palavras-chave

Epilepsy Genetics ApoE Apolipoprotein E GGE JME Genetic Generalized Epilepsies Doenças Genéticas

URI

http://hdl.handle.net/10400.18/7603

Citação

Int J Neurosci. 2020 Sep;130(9):892-897. doi: 10.1080/00207454.2019.1709840. Epub 2020 Jan 6

Editora

Taylor and Francis

DOI

10.1080/00207454.2019.1709840

Coleções

DGH - Artigos em revistas internacionais

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