Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons

J Neurosci. 2002 Aug 1;22(15):6362-71. doi: 10.1523/JNEUROSCI.22-15-06362.2002.

Abstract

Ca2+ currents, especially those activated at low voltages (LVA), influence burst generation in thalamocortical circuitry and enhance the abnormal rhythmicity associated with absence epilepsy. Mutations in several genes for high-voltage-activated (HVA) Ca2+ channel subunits are linked to spike-wave seizure phenotypes in mice; however, none of these mutations are predicted to increase intrinsic membrane excitability or directly enhance LVA currents. We examined biophysical properties of both LVA and HVA Ca2+ currents in thalamic cells of tottering (tg; Cav2.1/alpha1A subunit), lethargic (lh; beta4 subunit), and stargazer (stg; gamma2 subunit) brain slices. We observed 46, 51, and 45% increases in peak current densities of LVA Ca2+ currents evoked at -50 mV from -110 mV in tg, lh, and stg mice, respectively, compared with wild type. The half-maximal voltages for steady-state inactivation of LVA currents were shifted in a depolarized direction by 7.5-13.5 mV in all three mutants, although no alterations in the time-constant for recovery from inactivation of LVA currents were found. HVA peak current densities in tg and stg were increased by 22 and 45%, respectively, and a 5 mV depolarizing shift of the activation curve was observed in lh. Despite elevated LVA amplitudes, no alterations in mRNA expression of the genes mediating T-type subunits, Cav3.1/alpha1G, Cav3.2/alpha1H, or Cav3.3/alpha1I, were detected in the three mutants. Our data demonstrate that mutation of Cav2.1 or regulatory subunit genes increases intrinsic membrane excitability in thalamic neurons by potentiating LVA Ca2+ currents. These alterations increase the probability for abnormal thalamocortical synchronization and absence epilepsy in tg, lh, and stg mice.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Calcium / metabolism
  • Calcium Channels / genetics*
  • Calcium Channels / metabolism*
  • Calcium Channels, N-Type / genetics
  • Calcium Channels, N-Type / metabolism
  • Disease Models, Animal
  • Epilepsy, Absence / etiology
  • Epilepsy, Absence / metabolism*
  • Gene Expression
  • In Situ Hybridization
  • In Vitro Techniques
  • Membrane Potentials / physiology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Neurologic Mutants
  • Mutation
  • Neurons / metabolism*
  • Patch-Clamp Techniques
  • Protein Subunits
  • RNA, Messenger / metabolism
  • Thalamus / cytology
  • Thalamus / metabolism*

Substances

  • Calcium Channels
  • Calcium Channels, N-Type
  • Protein Subunits
  • RNA, Messenger
  • voltage-dependent calcium channel (P-Q type)
  • Calcium