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Addenda
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 Wakamuri, Kevin P. Campbell and Yasou Mori
volume 1 | issue 3
May/June 2007Pages: 144 - 147
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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 Ca2+ 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 Cav2.1 and L‑type Cav1.4 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.
Addendum to:
RIM1 Confers Sustained Activity and Neurotransmitter Vesicle Anchoring to Presynaptic Ca2+ Channels
S. Kiyonaka, M. Wakamori, T. Miki, Y. Uriu, M. Nonaka, H. Bito, A.M. Beedle, E. Mori, Y. Hara, M. De Waard, M. Kanagawa, M. Itakura, M. Takahashi, K.P. Campbell, and Y. Mori
Nat Neurosci 2007; 10:691-701
Authors
Takafumi Miki
Kyoto University; Kyoto, Japan
Shigeki Kiyonaka
Kyoto University; Kyoto, Japan
Yoshitsugu Uriu
Kyoto University; Kyoto, Japan
Michel De Waard
INSERM; Cedex, France
Minoru Wakamuri
Kyoto University; Kyoto, Japan; and Tohoku University; Sendai, Japan
Kevin P. Campbell
HHMI; and University of Iowa College of Medicine; Iowa City, Iowa USA
Yasou Mori
Kyoto University; Kyoto, Japan
We now provide open access to journal articles published online for one year or more. This article may be downloaded at the following link:
Download PDF If the document does not open, please right-click on the link (control-click on a Macintosh) and select the option to save the file to disk.