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Galanin pathogenic mutations in temporal lobe epilepsy.

Michel Guipponi¹, Amina Chentouf², Kristin E B Webling³

¹Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland michel.guipponi@unige.ch.

Human Molecular Genetics

|February 19, 2015

Summary

Genetic mutations in the GAL gene, encoding galanin, are identified as a rare cause of temporal lobe epilepsy (TLE). This discovery offers potential new avenues for anti-epileptic drug development.

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Area of Science:

Neuroscience
Genetics
Epilepsy Research

Background:

Temporal lobe epilepsy (TLE) is a common epilepsy syndrome with a complex and often unknown genetic basis.
The galanin neuropeptide is known to regulate seizures in animal models, but its role in human epilepsy was unestablished.
No pathogenic mutations in the galanin-encoding gene (GAL) had been reported in human epilepsy.

Purpose of the Study:

To investigate the genetic basis of TLE in a family with affected monozygotic twins.
To determine if mutations in the GAL gene are associated with TLE.
To functionally characterize a novel mutation in the GAL gene.

Main Methods:

Exome sequencing was performed on a family with TLE.
A novel de novo mutation (p.A39E) in the GAL gene was identified in affected twins.
Functional analysis of the mutant GAL protein was conducted, assessing its interaction with galanin receptors and its signaling properties.

Main Results:

A novel de novo mutation (p.A39E) in the GAL gene was identified in monozygotic twins with TLE.
The p.A39E mutant protein exhibited antagonistic activity at the galanin receptor 1 (GalR1) and reduced function at GalR2.
This mutation is suggested to impair hippocampal galanin signaling, potentially leading to increased glutamatergic excitation and TLE.
Mutations in GAL were found to be rare in a cohort of 582 epilepsy cases.

Conclusions:

The study identifies GAL as a causal gene for TLE in the studied family, supported by genetic and functional evidence.
The findings suggest that impaired galanin signaling due to GAL mutations can contribute to TLE pathogenesis.
The research has potential implications for developing novel anti-epileptic treatments targeting the galanin pathway.