Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

Sci Rep. 2015 Dec 9:5:17816. doi: 10.1038/srep17816.

Abstract

Febrile seizures (FS) are the most common seizure syndrome and are potentially a prelude to more severe epilepsy. Although zinc (Zn(2+)) metabolism has previously been implicated in FS, whether or not variation in proteins essential for Zn(2+) homeostasis contributes to susceptibility is unknown. Synaptic Zn(2+) is co-released with glutamate and modulates neuronal excitability. SLC30A3 encodes the zinc transporter 3 (ZNT3), which is primarily responsible for moving Zn(2+) into synaptic vesicles. Here we sequenced SLC30A3 and discovered a rare variant (c.892C > T; p.R298C) enriched in FS populations but absent in population-matched controls. Functional analysis revealed a significant loss-of-function of the mutated protein resulting from a trafficking deficit. Furthermore, mice null for ZnT3 were more sensitive than wild-type to hyperthermia-induced seizures that model FS. Together our data suggest that reduced synaptic Zn(2+) increases the risk of FS and more broadly support the idea that impaired synaptic Zn(2+) homeostasis can contribute to neuronal hyperexcitability.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Case-Control Studies
  • Cation Transport Proteins / chemistry
  • Cation Transport Proteins / genetics*
  • Cation Transport Proteins / metabolism*
  • Cell Line
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Humans
  • Inheritance Patterns
  • Kaplan-Meier Estimate
  • Mice, Knockout
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Rats
  • Risk
  • Seizures, Febrile / genetics*
  • Seizures, Febrile / metabolism*
  • Seizures, Febrile / mortality
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Zinc / metabolism*

Substances

  • Cation Transport Proteins
  • SLC30A3 protein, human
  • Zinc