Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function

J Biol Chem. 2000 Apr 14;275(15):10893-8. doi: 10.1074/jbc.275.15.10893.

Abstract

Abnormal CAG repeat expansion in the alpha1A voltage-dependent calcium channel gene is associated with spinocerebellar ataxia type 6, an autosomal dominant cerebellar ataxia with a predominant loss of the Purkinje cell. A reverse transcriptase-polymerase chain reaction analysis of mRNA from mouse Purkinje cells revealed a predominant expression of the alpha1A channel lacking an asparagine-proline (NP) stretch in the domain IV (alpha1A(-NP)). Human alpha1A channels carrying various polyglutamine length with or without NP were expressed in HEK293 cells, and channel properties were compared using a whole-cell voltage clamp technique. alpha1A(-NP), corresponding to P-type channel, with 24 and 28 polyglutamines found in patients showed the voltage dependence of inactivation shifting negatively by 6 and 11 mV, respectively, from the 13 polyglutamine control. Contrarily, the alpha1A channel with NP (alpha1A(+NP)), corresponding to Q-type channel, with 28 polyglutamines exhibited a positive shift of 5 mV. These results suggest that altered function of alpha1A(-NP) may contribute to degeneration of Purkinje cells, which express predominantly alpha1A(-NP), due to the reduced Ca(2+) influx resulting from the negative shift of voltage-dependent inactivation. On the other hand, other types of neurons, expressing both alpha1A(-NP) and alpha1A(+NP), may survive because the positive shift of voltage-dependent inactivation of alpha1A(+NP) compensates Ca(2+) influx.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Calcium Channels, P-Type / chemistry
  • Calcium Channels, P-Type / genetics*
  • Calcium Channels, P-Type / physiology
  • Calcium Channels, Q-Type / genetics
  • Cells, Cultured
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Mutation
  • Peptides / metabolism*
  • Rabbits
  • Reverse Transcriptase Polymerase Chain Reaction
  • Spinocerebellar Degenerations / genetics*

Substances

  • Calcium Channels, P-Type
  • Calcium Channels, Q-Type
  • Peptides
  • polyglutamine

Associated data

  • GENBANK/AB035726
  • GENBANK/AB035727