Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release

Dis Model Mech. 2009 Nov-Dec;2(11-12):612-9. doi: 10.1242/dmm.003582. Epub 2009 Sep 24.

Abstract

Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1 subunits, cause episodic ataxia type 1 (EA1), which is characterized by paroxysmal cerebellar incoordination and interictal myokymia. Some mutations are also associated with epilepsy. Although Kv1.1-containing potassium channels play important roles in neuronal excitability and neurotransmitter release, it is not known how mutations associated with different clinical features affect the input-output relationships of individual neurons. We transduced rat hippocampal neurons, which were cultured on glial micro-islands, with lentiviruses expressing wild-type or mutant human KCNA1, and injected either depolarizing currents to evoke action potentials or depolarizing voltage commands to evoke autaptic currents. alpha-Dendrotoxin and tetraethylammonium allowed a pharmacological dissection of potassium currents underlying excitability and neurotransmission. Overexpression of wild-type Kv1.1 decreased both neuronal excitability and neurotransmitter release. By contrast, the C-terminus-truncated R417stop mutant, which is associated with severe drug-resistant EA1, had the opposite effect: increased excitability and release probability. Another mutant, T226R, which is associated with EA1 that is complicated by contractures and epilepsy, had no detectable effect on neuronal excitability; however, in common with R417stop, it markedly enhanced neurotransmitter release. The results provide direct evidence that EA1 mutations increase neurotransmitter release, and provide an insight into mechanisms underlying the phenotypic differences that are associated with different mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Newborn
  • Ataxia / genetics*
  • Ataxia / physiopathology
  • Disease Models, Animal
  • Heterozygote
  • Hippocampus / metabolism
  • Humans
  • Kv1.1 Potassium Channel / genetics
  • Lentivirus / genetics
  • Mutation*
  • Neurons / metabolism*
  • Neurotransmitter Agents / metabolism
  • Promoter Regions, Genetic
  • Protein Structure, Tertiary
  • Rats

Substances

  • Kcna1 protein, rat
  • Neurotransmitter Agents
  • Kv1.1 Potassium Channel