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Serotonin transporter gene (5HTT) polymorphisms and temporal lobe epilepsy.

Laila Cigana Schenkel¹, José Augusto Bragatti, Carolina Machado Torres

¹Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Ramiro Barcelos 2350, Porto Alegre, Brazil.

Epilepsy Research

|April 19, 2011

Summary

Genetic variations in the serotonin transporter gene, specifically 5HTTLPR and 5HTTVNTR, are linked to temporal lobe epilepsy (TLE). Less efficient gene variants were more common in TLE patients, suggesting a role in seizure development.

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Area of Science:

Neuroscience
Genetics
Epilepsy Research

Background:

Serotonin levels are implicated in seizure susceptibility.
The serotonin transporter gene (SLC6A4) plays a key role in regulating serotonin levels.
Genetic variations in the serotonin transporter gene may influence the risk of developing epilepsy.

Purpose of the Study:

To investigate the association between 5HTTLPR and 5HTTVNTR allele variants in the serotonin transporter gene and epileptogenesis in temporal lobe epilepsy (TLE).
To determine if specific genotypes related to serotonin transporter gene expression are more prevalent in TLE patients.

Main Methods:

A case-control candidate gene study was conducted.
Frequencies of 5HTTLPR and 5HTTVNTR allele variants were compared between 175 TLE patients and 155 healthy controls.
Genotypes were analyzed based on their transcriptional efficiency.

Main Results:

Genotypes with less efficient transcriptional activity for the serotonin transporter gene were significantly more frequent in TLE patients (O.R.=3.24, p=0.036).
This finding suggests a potential association between reduced serotonin transporter function and the development of TLE.

Conclusions:

An association was observed between combined less efficient transcriptional genotypes of 5HTTLPR and 5HTTVNTR and TLE.
These results indicate that modulation of the serotoninergic system may be involved in the underlying mechanisms of epileptogenesis in TLE.