Abstract
The RIM1 mutation associated with an autosomal dominant cone-rod dystrophy, CORD7, alters effects of RIM1 on VDCC currents
Proceedings of Annual Meeting of the Physiological Society of Japan, Vol.58(S2), pp.S74-S74
Proceedings of Annual Meeting of the Physiological Society of Japan Proceedings of Annual Meeting of the Physiological Society of Japan
2008
DOI: 10.14849/psjproc.2008.0_074_2
Abstract
Recent genetic analyses have revealed an important association of the gene encoding the Rab3A-interacting molecule (RIM1) with CORD7, an autosomal dominant cone-rod dystrophy. However, the effects of RIM1 mutation which associated with CORD7 have remained unclear. Recently we have revealed effects of RIM1 on VDCC currents, anchoring of neurotransmitter-containing vesicles and neurotransmitter release. In this study, we demonstrate that the mouse RIM1 arginine-to-histidine substitution R655H, which corresponds to human CORD7 mutation, impaires RIM1 function in ACh release and regulation of VDCC currents. Thus, we suggest that phenotypes of familial cone-rod dystrophy with RIM1 mutation can be at least partly attributable to defects in regulation of presynaptic VDCC currents, presumably resulting in retinal deficits. [J Physiol Sci. 2008;58 Suppl:S74]
Details
- Title: Subtitle
- The RIM1 mutation associated with an autosomal dominant cone-rod dystrophy, CORD7, alters effects of RIM1 on VDCC currents
- Creators
- Takafumi Miki - Grad. Sch. Eng. Kyoto, Kyoto, JapanShigeki Kiyonaka - Grad. Sch. Eng. Kyoto, Kyoto, JapanYoshitsugu Uriu - Grad. Sch. Eng. Kyoto, Kyoto, JapanMichel De Waard - Inserm U607Minoru Wakamori - Grad. Sch. Dent. Tohoku, Sendai, JapanKevin P Campbell - University of IowaYasuo Mori - Grad. Sch. Eng. Kyoto, Kyoto, Japan
- Resource Type
- Abstract
- Publication Details
- Proceedings of Annual Meeting of the Physiological Society of Japan, Vol.58(S2), pp.S74-S74
- Conference
- Proceedings of Annual Meeting of the Physiological Society of Japan Proceedings of Annual Meeting of the Physiological Society of Japan
- Publisher
- PHYSIOLOGICAL SOCIETY OF JAPAN
- DOI
- 10.14849/psjproc.2008.0_074_2
- Language
- English
- Date published
- 2008
- Academic Unit
- Molecular Physiology and Biophysics; Neurology; Iowa Neuroscience Institute
- Record Identifier
- 9984068235102771
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