Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels.

Takafumi Miki, Shigeki Kiyonaka, Yoshitsugu Uriu, Michel De Waard, Minoru Wakamori, Aaron M. Beedle, Kevin P. Campbell, Yasuo Mori

研究成果: Article査読

24 被引用数 (Scopus)

抄録

Genetic analyses have revealed an association between the gene encoding the Rab3A-interacting molecule (RIM1) and the autosomal dominant cone-rod dystrophy CORD7. However, the pathogenesis of CORD7 remains unclear. We recently revealed that RIM1 regulates voltage-dependent Ca(2+) channel (VDCC) currents and anchors neurotransmitter-containing vesicles to VDCCs, thereby controlling neurotransmitter release. We demonstrate here that the mouse RIM1 arginine-to-histidine substitution (R655H), which corresponds to the human CORD7 mutation, modifies RIM1 function in regulating VDCC currents elicited by the P/Q-type Ca(v)2.1 and L-type Ca(v)1.4 channels. Thus, our data can raise an interesting possibility that CORD7 phenotypes including retinal deficits and enhanced cognition are at least partly due to altered regulation of presynaptic VDCC currents.

本文言語English
ページ(範囲)144-147
ページ数4
ジャーナルChannels (Austin, Tex.)
1
3
DOI
出版ステータスPublished - 2007

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry

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