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Related Experiment Videos

Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease

Angelita Tottene1, Tommaso Fellin, Stefano Pagnutti

  • 1Department of Biomedical Sciences, University of Padova, 35121 Padova, Italy.

Proceedings of the National Academy of Sciences of the United States of America
|September 18, 2002
PubMed
Summary

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Familial hemiplegic migraine (FHM) mutations in Ca(V)2.1 channels increase calcium influx and decrease current density in neurons. These findings offer insights into migraine with aura pathogenesis.

Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Migraine with aura pathogenesis may involve Ca(V)2.1 channels.
  • Familial hemiplegic migraine (FHM) is linked to Ca(V)2.1 channel mutations.

Purpose of the Study:

  • To analyze the functional effects of Ca(V)2.1 channel mutation V1457L.
  • To investigate common functional changes across FHM Ca(V)2.1 mutations.
  • To compare FHM mutation effects in different cell types.

Main Methods:

  • Single-channel analysis of human Ca(V)2.1 channels with V1457L mutation.
  • Calculation of Ca(2+) influx using single-channel current and open probability.
  • Expression of FHM mutants in HEK293 cells and cerebellar granule neurons from Ca(V)2.1alpha(1)-/- mice.

Related Experiment Videos

Main Results:

  • V1457L mutation increased channel open probability and Ca(2+) influx, while reducing unitary conductance and functional channel density.
  • All five analyzed FHM mutants exhibited increased single-channel Ca(2+) influx compared to wild type.
  • FHM mutations decreased maximal Ca(V)2.1 current density in neurons, with cell-type-specific differences in functional channel density.

Conclusions:

  • Common effects of FHM mutations include increased single-channel Ca(2+) influx and decreased maximal neuronal Ca(V)2.1 current density.
  • Mutational effects on functional channel densities can vary between cell types.
  • Findings provide insights into the pathogenesis of migraine with aura.