Genetic ablation of phospholipase C delta 1 increases survival in SOD1G93A mice

Neurobiology of Disease

Volumn 60, Issue , 2013, Pages 11-17

  Staats, Kim A ^a,b   Van Helleputte, Lawrence ^a,b   Jones, Ashley R ^c   Bento Abreu, André ^a,b   Van Hoecke, Annelies ^a,b   Shatunov, Aleksey ^c   Simpson, Claire L ^d   Lemmens, Robin ^a,b,e   Jaspers, Tom ^a,b   Fukami, Kiyoko ^f   Nakamura, Yoshikazu ^f   Brown, Robert H ^g   Van Damme, Philip ^a,b,e   Liston, Adrian ^h,i   Robberecht, Wim ^a,b,e   Al Chalabi, Ammar ^c   Van Den Bosch, Ludo ^a,b  

^a Laboratory of Neurobiology   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c Vesalius Research Center VIB   (Belgium)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f University Hospital   (Belgium)

^g TOKYO UNIVERSITY OF PHARMACY AND LIFE SCIENCES   (Japan)

^h UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

ⁱ DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

Author keywords

Amyotrophic lateral sclerosis; Excitotoxicity; Motor neuron disease; Neurogenetics; Nuclear shrinkage; Phospholipase C delta 1; SOD1 G93A mice

Indexed keywords

INOSITOL 1,4,5 TRISPHOSPHATE; PHOSPHOLIPASE C DELTA1;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL AGGREGATION; CELL NUCLEUS; CELL SIZE; CONTROLLED STUDY; DNA DETERMINATION; ENDOPLASMIC RETICULUM; EXCITOTOXICITY; FEMALE; GENE FUNCTION; GENE PRODUCT; GENETIC ABLATION; GENETIC CODE; GENETIC PROCEDURES; GLIOSIS; HUMAN; MICROSATELLITE MARKER; MOTONEURON; MOUSE; NONHUMAN; PHOSPHOLIPASE C DELTA1 GENE; PRIORITY JOURNAL; SPINAL CORD; SURVIVAL;

ALS; AMPA; AMYOTROPHIC LATERAL SCLEROSIS; C9ORF72; CHROMOSOME 9 OPEN READING FRAME 72; DIPEPTIDYL-PEPTIDASE 6; DPP6; ELONGATOR PROTEIN 3; ELP3; ENDOPLASMIC RETICULUM; ER; EXCITOTOXICITY; FUS/TLS; FUSED IN SARCOMA/TRANSLOCATED IN LIPOSARCOMA; GFAP; GLIAL FIBRILLARY ACIDIC PROTEIN; INOSITOL 1,4,5-TRISPHOSPHATE; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR 2; IP(3); ITPR2; MOTOR NEURON DISEASE; NEUROGENETICS; NUCLEAR SHRINKAGE; PBS; PCR; PFN1; PHOSPHATE BUFFERED SALINE; PHOSPHOINOSITIDE PHOSPHOLIPASE C; PHOSPHOLIPASE C DELTA 1; PLCD1; POAG; POLYMERASE CHAIN REACTION; PRIMARY OPEN-ANGLE GLAUCOMA; PROFILIN 1; SDS-PAGE; SINGLE NUCLEOTIDE POLYMORPHISM; SNP; SOD1; SOD1-G93A MICE; SODIUM DODECYL SULFATE POLYACRYLAMIDE GEL ELECTROPHORESIS; SUPEROXIDE DISMUTASE 1; TAR-DNA BINDING PROTEIN 43; TARDBP; UBIQUILIN 2; UBQLN2; UNC-13 HOMOLOG A; UNC13A; Α-AMINO-3-HYDROXY-5-METHYL-4-ISOXAZOLEPROPIONIC ACID;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICE, TRANSGENIC; NEURONS; PHOSPHOLIPASE C DELTA; SPINAL CORD; SUPEROXIDE DISMUTASE; SURVIVAL ANALYSIS;

EID: 84883646465     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2013.08.006     Document Type: Article

References (48)

1. Andersen P.M., Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nat. Rev. Neurol. 2011, 7:603-615.
2. Azuma T., et al. Gelsolin in complex with phosphatidylinositol 4,5-bisphosphate inhibits caspase-3 and -9 to retard apoptotic progression. J. Biol. Chem. 2000, 275:3761-3766.
3. Baird P.N., et al. Evidence for a novel glaucoma locus at chromosome 3p21-22. Hum. Genet. 2005, 117:249-257.
4. Bruijn L.I., et al. Unraveling the mechanisms involved in motor neuron degeneration in ALS. Annu. Rev. Neurosci. 2004, 27:723-749.
5. Canton T., et al. RPR 119990, a novel α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid antagonist: synthesis, pharmacological properties, and activity in an animal model of amyotrophic lateral sclerosis. J. Pharmacol. Exp. Ther. 2001, 299:314-322.
6. Cid C., et al. Low concentrations of glutamate induce apoptosis in cultured neurons: implications for amyotrophic lateral sclerosis. J. Neurol. Sci. 2003, 206:91-95.
7. Dejesus-Hernandez M., et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72:245-256.
8. Fischer L.R., et al. Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man. Exp. Neurol. 2004, 185:232-240.
9. Gitcho M.A., et al. TDP-43 A315T mutation in familial motor neuron disease. Ann. Neurol. 2008, 63:535-538.
10. Gould T.W., et al. Complete dissociation of motor neuron death from motor dysfunction by Bax deletion in a mouse model of ALS. J. Neurosci. 2006, 26:8774-8786.
11. Hirata M., et al. Genetic defect in phospholipase Cdelta1 protects mice from obesity by regulating thermogenesis and adipogenesis. Diabetes 2011, 60:1926-1937.
12. Kabashi E., et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat. Genet. 2008, 40:572-574.
13. Kiuru M., et al. Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Am. J. Hum. Genet. 2011, 88:839-844.
14. Kostic V., et al. Bcl-2: prolonging life in a transgenic mouse model of familial amyotrophic lateral sclerosis. Science 1997, 277:559-562.
15. Kwee L.C., et al. A high-density genome-wide association screen of sporadic ALS in US veterans. PLoS One 2012, 7:e32768.
16. Kwiatkowski T.J., et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009, 323:1205-1208.
17. Lee W.K., et al. Molecular cloning and expression analysis of a mouse phospholipase C-delta1. Biochem. Biophys. Res. Commun. 1999, 261:393-399.
18. Logroscino G., et al. Incidence of amyotrophic lateral sclerosis in Europe. J. Neurol. Neurosurg. Psychiatry 2010, 81:385-390.
19. Maruyama H., et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010, 465:223-226.
20. Miller R.G., et al. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst. Rev. 2012, 3. (CD001447).
21. Nakamura Y., et al. Phospholipase Cdelta1 is required for skin stem cell lineage commitment. EMBO J. 2003, 22:2981-2991.
22. Nakamura Y., et al. Phospholipase C-delta1 and -delta3 are essential in the trophoblast for placental development. Mol. Cell. Biol. 2005, 25:10979-10988.
23. Okada M., et al. Calcium fluxes cause nuclear shrinkage and the translocation of phospholipase C-delta1 into the nucleus. Neurosci. Lett. 2010, 472:188-193.
24. Pun S., et al. Selective vulnerability and pruning of phasic motoneuron axons in motoneuron disease alleviated by CNTF. Nat. Neurosci. 2006, 9:408-419.
25. Purcell S., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 2007, 81:559-575.
26. Renton A.E., et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72:257-268.
27. Rezaie T., et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002, 295:1077-1079.
28. Rosen D.R., et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362:59-62.
29. Scott L.J., et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 2007, 316:1341-1345.
30. Sham P.C., Curtis D. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann. Hum. Genet. 1995, 59:97-105.
31. Shatunov A., et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010, 9:986-994.
32. Shibutani S., et al. Coronary vasospasm induced in transgenic mouse with increased phospholipase C-delta1 activity. Circulation 2012, 125:1027-1036.
33. Shimohama S., et al. Glutamate-induced antigenic changes of phospholipase C-delta in cultured cortical neurons. J. Neurosci. Res. 1995, 41:418-426.
34. Shimohama S., et al. Differential involvement of phospholipase C isozymes in Alzheimer's disease. Gerontology 1995, 41(Suppl. 1):13-19.
35. Simpson C.L., et al. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum. Mol. Genet. 2009, 18:472-481.
36. Sreedharan J., et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008, 319:1668-1672.
37. Staats K.A., et al. Neuronal overexpression of IP(3) receptor 2 is detrimental in mutant SOD1 mice. Biochem. Biophys. Res. Commun. 2012, 429:210-213.
38. G93A mice. Neuroscience 2012, 220:26-31.
39. Takadera T., Ohyashiki T. Caspase-dependent apoptosis induced by calcineurin inhibitors was prevented by glycogen synthase kinase-3 inhibitors in cultured rat cortical cells. Brain Res. 2007, 1133:20-26.
40. Tortarolo M., et al. Glutamate AMPA receptors change in motor neurons of SOD1(G93A) transgenic mice and their inhibition by a noncompetitive antagonist ameliorates the progression of amytrophic lateral sclerosis-like disease. J. Neurosci. Res. 2006, 83:134-146.
41. 2+-dependent AMPA receptor-mediated motoneuron death. J. Neurosci. 2003, 23:4942-4950.
42. Van Damme P., et al. The AMPA receptor antagonist NBQX prolongs survival in a transgenic mouse model of amyotrophic lateral sclerosis. Neurosci. Lett. 2003, 343:81-84.
43. van Es M.A., et al. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol. 2007, 6:869-877.
44. van Es M.A., et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat. Genet. 2008, 40:29-31.
45. van Es M.A., et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat. Genet. 2009, 41:1083-1087.
46. Vance C., et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009, 323:1208-1211.
47. Wain L.V., et al. The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci. PLoS One 2009, 4:e8175.
48. Yamazaki M., et al. Is motoneuronal cell death in amyotrophic lateral sclerosis apoptosis?. Neuropathology 2005, 25:381-387.