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 Beedle; Kevin Campbell; Yasuo Mori

doi:10.4161/chan.4660

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

Journal article

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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 Beedle, Kevin Campbell and Yasuo Mori

Channels (Austin), Vol.1(3), pp.144-147

05/2007

DOI: 10.4161/chan.4660

PMCID: PMC4850211

PMID: 18690027

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Abstract

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.

Life Sciences

Phenotype

Retinitis Pigmentosa

Transfection

Mutation

Cell Line

Humans

Neurons and Cognition

Calcium Channels, L-Type

Genotype

Animals

Membrane Potentials

Calcium Channels, N-Type

Presynaptic Terminals

Mice

GTP-Binding Proteins

Details

Title: Subtitle: Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels
Creators: Takafumi Miki - Department of Synthetic Chemistry and Biological Chemistry
Shigeki Kiyonaka - Department of Synthetic Chemistry and Biological Chemistry
Yoshitsugu Uriu - Department of Synthetic Chemistry and Biological Chemistry
Michel De Waard - Canaux calciques , fonctions et pathologies
Minoru Wakamori - Department of Synthetic Chemistry and Biological Chemistry
Aaron Beedle - Department of Molecular Physiology and Biophysics
Kevin Campbell - Department of Molecular Physiology and Biophysics
Yasuo Mori - Department of Synthetic Chemistry and Biological Chemistry
Resource Type: Journal article
Publication Details: Channels (Austin), Vol.1(3), pp.144-147
DOI: 10.4161/chan.4660
PMID: 18690027
PMCID: PMC4850211
ISSN: 1933-6950
eISSN: 1933-6969
Language: English
Date published: 05/2007
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984068373502771

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