Inositol Trisphosphate Receptor Ca2+ Release Channels in Neurological Diseases

Overview

Journal Pflugers Arch

Specialty Physiology

Date 2010 Apr 13

PMID 20383523

Citations 40

Authors

J Kevin Foskett

Affiliations

Soon will be listed here.

Abstract

The modulation of cytoplasmic Ca2+ concentration by release from internal stores through the inositol trisphosphate receptor (InsP3R) Ca2+ release channel is a ubiquitous signaling system involved in the regulation of numerous processes. Because of its ubiquitous expression and roles in regulating diverse cell physiological processes, it is not surprising that the InsP3R has been implicated in a number of disease states. However, relatively few mutations in InsP3R genes have been identified to date. Here, I will discuss mutations in the type 1 InsP3R that have been discovered by analyses of human patients and mice with neurological disorders. In addition, I will highlight diseases caused by mutations in other genes, including Huntington's and Alzheimer's diseases and some spinocerebellar ataxias, where the mutant proteins have been found to exert strong influences on InsP3R function that may link InsP3R to disease pathogenesis.

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References

Ionescu L, White C, Cheung K, Shuai J, Parker I, Pearson J . Mode switching is the major mechanism of ligand regulation of InsP3 receptor calcium release channels. J Gen Physiol. 2007; 130(6):631-45. PMC: 2151663. DOI: 10.1085/jgp.200709859. View

Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H . Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology. 2008; 71(8):547-51. DOI: 10.1212/01.wnl.0000311277.71046.a0. View

Hirota J, Ando H, Hamada K, Mikoshiba K . Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1. Biochem J. 2003; 372(Pt 2):435-41. PMC: 1223404. DOI: 10.1042/BJ20030110. View

Green K, LaFerla F . Linking calcium to Abeta and Alzheimer's disease. Neuron. 2008; 59(2):190-4. DOI: 10.1016/j.neuron.2008.07.013. View

Kaltenbach L, Romero E, Becklin R, Chettier R, Bell R, Phansalkar A . Huntingtin interacting proteins are genetic modifiers of neurodegeneration. PLoS Genet. 2007; 3(5):e82. PMC: 1866352. DOI: 10.1371/journal.pgen.0030082. View

Ando H, Mizutani A, Matsu-Ura T, Mikoshiba K . IRBIT, a novel inositol 1,4,5-trisphosphate (IP3) receptor-binding protein, is released from the IP3 receptor upon IP3 binding to the receptor. J Biol Chem. 2003; 278(12):10602-12. DOI: 10.1074/jbc.M210119200. View

Bosanac I, Alattia J, Mal T, Chan J, Talarico S, Tong F . Structure of the inositol 1,4,5-trisphosphate receptor binding core in complex with its ligand. Nature. 2002; 420(6916):696-700. DOI: 10.1038/nature01268. View

Ionescu L, Cheung K, Vais H, Mak D, White C, Foskett J . Graded recruitment and inactivation of single InsP3 receptor Ca2+-release channels: implications for quantal [corrected] Ca2+release. J Physiol. 2006; 573(Pt 3):645-62. PMC: 1779751. DOI: 10.1113/jphysiol.2006.109504. View

Green K, Demuro A, Akbari Y, Hitt B, Smith I, Parker I . SERCA pump activity is physiologically regulated by presenilin and regulates amyloid beta production. J Cell Biol. 2008; 181(7):1107-16. PMC: 2442205. DOI: 10.1083/jcb.200706171. View

10.

Forman M, Trojanowski J, Lee V . Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs. Nat Med. 2004; 10(10):1055-63. DOI: 10.1038/nm1113. View

11.

van de Leemput J, Chandran J, Knight M, Holtzclaw L, Scholz S, Cookson M . Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007; 3(6):e108. PMC: 1892049. DOI: 10.1371/journal.pgen.0030108. View

12.

Kockskamper J, Zima A, Roderick H, Pieske B, Blatter L, Bootman M . Emerging roles of inositol 1,4,5-trisphosphate signaling in cardiac myocytes. J Mol Cell Cardiol. 2008; 45(2):128-47. PMC: 2654363. DOI: 10.1016/j.yjmcc.2008.05.014. View

13.

Chan S, Mayne M, Holden C, Geiger J, Mattson M . Presenilin-1 mutations increase levels of ryanodine receptors and calcium release in PC12 cells and cortical neurons. J Biol Chem. 2000; 275(24):18195-200. DOI: 10.1074/jbc.M000040200. View

14.

Wojcikiewicz R, Pearce M, Sliter D, Wang Y . When worlds collide: IP(3) receptors and the ERAD pathway. Cell Calcium. 2009; 46(3):147-53. PMC: 2752845. DOI: 10.1016/j.ceca.2009.05.002. View

15.

Lastres-Becker I, Rub U, Auburger G . Spinocerebellar ataxia 2 (SCA2). Cerebellum. 2008; 7(2):115-24. DOI: 10.1007/s12311-008-0019-y. View

16.

Tu H, Miyakawa T, Wang Z, Glouchankova L, Iino M, Bezprozvanny I . Functional characterization of the type 1 inositol 1,4,5-trisphosphate receptor coupling domain SII(+/-) splice variants and the Opisthotonos mutant form. Biophys J. 2002; 82(4):1995-2004. PMC: 1301995. DOI: 10.1016/S0006-3495(02)75548-3. View

17.

Street V, Bosma M, Demas V, Regan M, Lin D, Robinson L . The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse. J Neurosci. 1997; 17(2):635-45. PMC: 6573232. View

18.

Etcheberrigaray R, Hirashima N, Nee L, Prince J, Govoni S, Racchi M . Calcium responses in fibroblasts from asymptomatic members of Alzheimer's disease families. Neurobiol Dis. 1998; 5(1):37-45. DOI: 10.1006/nbdi.1998.0176. View

19.

Yoshikawa F, Iwasaki H, Michikawa T, Furuichi T, Mikoshiba K . Cooperative formation of the ligand-binding site of the inositol 1,4, 5-trisphosphate receptor by two separable domains. J Biol Chem. 1998; 274(1):328-34. DOI: 10.1074/jbc.274.1.328. View

20.

Ogura H, Matsumoto M, Mikoshiba K . Motor discoordination in mutant mice heterozygous for the type 1 inositol 1,4,5-trisphosphate receptor. Behav Brain Res. 2001; 122(2):215-9. DOI: 10.1016/s0166-4328(01)00187-5. View