Casein kinase Iδ mutations in familial migraine and advanced sleep phase

Science Translational Medicine

Volumn 5, Issue 183, 2013, Pages

  Brennan, K C ^a,b   Bates, Emily A ^c,d   Shapiro, Robert E ^e   Zyuzin, Jekaterina ^a   Hallows, William C ^c   Huang, Yong ^c   Lee, Hsien Yang ^c   Jones, Christopher R ^b   Fu, Ying Hui ^c   Charles, Andrew C ^a   Ptáček, Louis J ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d N243 Eyring Science Center   (United States)

^e UNIVERSITY OF VERMONT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASEIN KINASE IDELTA; GLYCERYL TRINITRATE;

ANIMAL CELL; ANIMAL EXPERIMENT; ARTERY DILATATION; ARTICLE; ASTROCYTE; CALCIUM SIGNALING; CKI DELTA GENE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; FAMILIAL ADVANCED SLEEP PHASE SYNDROME; FEMALE; HUMAN; MALE; MIGRAINE; MISSENSE MUTATION; MOUSE; NOCICEPTION; NONHUMAN; PRIORITY JOURNAL; SLEEP DISORDER; SPREADING CORTICAL DEPRESSION;

ANIMALS; ASTROCYTES; CALCIUM SIGNALING; CASEIN KINASE IDELTA; CORTICAL SPREADING DEPRESSION; FEMALE; HEK293 CELLS; HUMANS; HYPERALGESIA; MALE; MICE; MIGRAINE DISORDERS; MUTANT PROTEINS; MUTATION; NITROGLYCERIN; PEDIGREE; PHENOTYPE; PHYSICAL STIMULATION; PROTO-ONCOGENE PROTEINS C-FOS; SENSORY THRESHOLDS; SLEEP; SLEEP STAGES; SPINAL CORD; TRIGEMINAL NUCLEI; VASOCONSTRICTION; VASODILATION;

EID: 84878284391     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.3005784     Document Type: Article

References (48)

1. W. F. Stewart, C. Wood, M. L. Reed, J. Roy, R. B. Lipton; AMPP Advisory Group, Cumulative lifetime migraine incidence in women and men. Cephalalgia 28, 1170-1178 (2008).
2. L. J. Stovner, K. Hagen, R. Jensen, Z. Katsarava, R. Lipton, A. Scher, T. Steiner, J. A. Zwart, The global burden of headache: A documentation of headache prevalence and disability worldwide. Cephalalgia 27, 193-210 (2007).
3. M. E. Bigal, J. N. Liberman, R. B. Lipton, Age-dependent prevalence and clinical features of migraine. Neurology 67, 246-251 (2006).
4. M. B. Russell, J. Olesen, The genetics of migraine without aura and migraine with aura. Cephalalgia 13, 245-248 (1993).
5. W. F. Stewart, J. Staffa, R. B. Lipton, R. Ottman, Familial risk of migraine: A population-based study. Ann. Neurol. 41, 166-172 (1997).
6. + pump α2 subunit associatedwith familial hemiplegic migraine type 2. Nat. Genet. 33, 192-196 (2003).
7. M. Dichgans, T. Freilinger, G. Eckstein, E. Babini, B. Lorenz-Depiereux, S. Biskup, M. D. Ferrari, J. Herzog, A. M. van den Maagdenberg, M. Pusch, T. M. Strom, Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366, 371-377 (2005).
8. 2+ channel gene CACNL1A4. Cell 87, 543-552 (1996).
9. D. I. Chasman, M. Schürks, V. Anttila, B. de Vries, U. Schminke, L. J. Launer, G. M. Terwindt, A. M. van den Maagdenberg, K. Fendrich, H. Völzke, F. Ernst, L. R. Griffiths, J. E. Buring, M. Kallela, T. Freilinger, C. Kubisch, P. M. Ridker, A. Palotie, M. D. Ferrari, W. Hoffmann, R. Y. Zee, T. Kurth, Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nat. Genet. 43, 695-698 (2011).
10. T. Wieser, J. Pascual, A. Oterino, M. Soso, M. Barmada, K. L. Gardner, A novel locus for familial migraine on Xp22. Headache 50, 955-962 (2010).
11. V. Anttila, H. Stefansson, M. Kallela, U. Todt, G. M. Terwindt, M. S. Calafato, D. R. Nyholt, A. S. Dimas, T. Freilinger, B. Muller-Myhsok, V. Artto, M. Inouye, K. Alakurtti, M. A. Kaunisto, E. Hämäläinen, B. de Vries, A. H. Stam, C. M. Weller, A. Heinze, K. Heinze-Kuhn, I. Goebel, G. Borck, H. Göbel, S. Steinberg, C. Wolf, A. Björnsson, G. Gudmundsson, M. Kirchmann, A. Hauge, T. Werge, J. Schoenen, J. G. Eriksson, K. Hagen, L. Stovner, H. E. Wichmann, T. Meitinger, M. Alexander, S. Moebus, S. Schreiber, Y. S. Aulchenko, M. M. Breteler, A. G. Uitterlinden, A. Hofman, C. M. van Duijn, P. Tikka-Kleemola, S. Vepsäläinen, S. Lucae, F. Tozzi, P. Muglia, J. Barrett, J. Kaprio, M. Farkkila, L. Peltonen, K. Stefansson, J. A. Zwart, M. D. Ferrari, J. Olesen, M. Daly, M. Wessman, A. M. van den Maagdenberg, M. Dichgans, C. Kubisch, E. T. Dermitzakis, R. R. Frants, A. Palotie; International Headache Genetics Consortium, Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat. Genet. 42, 869-873 (2010).
12. T. Freilinger, V. Anttila, B. de Vries, R. Malik, M. Kallela, G. M. Terwindt, P. Pozo-Rosich, B. Winsvold, D. R. Nyholt, W. P. van Oosterhout, V. Artto, U. Todt, E. Hämäläinen, J. Fernández-Morales, M. A. Louter, M. A. Kaunisto, J. Schoenen, O. Raitakari, T. Lehtimäki, M. Vila-Pueyo, H. Göbel, E. Wichmann, C. Sintas, A. G. Uitterlinden, A. Hofman, F. Rivadeneira, A. Heinze, E. Tronvik, C. M. van Duijn, J. Kaprio, B. Cormand, M. Wessman, R. R. Frants, T. Meitinger, B. Müller-Myhsok, J. A. Zwart, M. Färkkilä, A. Macaya, M. D. Ferrari, C. Kubisch, A. Palotie, M. Dichgans, A. M. van den Maagdenberg; International Headache Genetics Consortium, Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat. Genet. 44, 777-782 (2012).
13. R. G. Lafrenière, M. Z. Cader, J. F. Poulin, I. Andres-Enguix, M. Simoneau, N. Gupta, K. Boisvert, F. Lafrenière, S. McLaughlan, M. P. Dubé, M. M. Marcinkiewicz, S. Ramagopalan, O. Ansorge, B. Brais, J. Sequeiros, J. M. Pereira-Monteiro, L. R. Griffiths, S. J. Tucker, G. Ebers, G. A. Rouleau, A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nat. Med. 16, 1157-1160 (2010).
14. Y. Xu, Q. S. Padiath, R. E. Shapiro, C. R. Jones, S. C. Wu, N. Saigoh, K. Saigoh, L. J. Ptácek, Y. H. Fu, Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome. Nature 434, 640-644 (2005).
15. U. Knippschild, A. Gocht, S. Wolff, N. Huber, J. Löhler, M. Stöter, The casein kinase 1 family: Participation in multiple cellular processes in eukaryotes. Cell. Signal. 17, 675-689 (2005).
16. Headache Classification Subcommittee of the International Headache Society, The International Classification of Headache Disorders: 2nd edition. Cephalalgia 24 (Suppl. 1), 9-160 (2004).
17. M. Theis, R. Jauch, L. Zhuo, D. Speidel, A. Wallraff, B. Döring, C. Frisch, G. Söhl, B. Teubner, C. Euwens, J. Huston, C. Steinhäuser, A. Messing, U. Heinemann, K. Willecke, Accelerated hippocampal spreading depression and enhanced locomotory activity in mice with astrocyte-directed inactivation of connexin43. J. Neurosci. 23, 766-776 (2003).
18. I. Christiansen, L. L. Thomsen, D. Daugaard, V. Ulrich, J. Olesen, Glyceryl trinitrate induces attacks of migraine without aura in sufferers of migraine with aura. Cephalalgia 19, 660-667 (1999).
19. E. A. Bates, T. Nikai, K. C. Brennan, Y. H. Fu, A. C. Charles, A. I. Basbaum, L. J. Ptácek, A. H. Ahn, Sumatriptan alleviates nitroglycerin-induced mechanical and thermal allodynia in mice. Cephalalgia 30, 170-178 (2010).
20. R. J. Storer, P. J. Goadsby, Trigeminovascular nociceptive transmission involves N-methyl-D-aspartate and non-N-methyl-D-aspartate glutamate receptors. Neuroscience 90, 1371-1376 (1999).
21. H. Bolay, U. Reuter, A. K. Dunn, Z. Huang, D. A. Boas, M. A. Moskowitz, Intrinsic brain activity triggers trigeminal meningeal afferents in a migraine model. Nat. Med. 8, 136-142 (2002).
22. L. Edvinsson, Tracing neural connections to pain pathways with relevance to primary headaches. Cephalalgia 31, 737-747 (2011).
23. X. Zhang, D. Levy, R. Noseda, V. Kainz, M. Jakubowski, R. Burstein, Activation of meningeal nociceptors by cortical spreading depression: Implications for migraine with aura. J. Neurosci. 30, 8807-8814 (2010).
24. K. C. Brennan, M. Romero-Reyes, H. E. López Valdés, A. P. Arnold, A. C. Charles, Reduced threshold for cortical spreading depression in female mice. Ann. Neurol. 61, 603-606 (2007).
25. C. Ayata, H. Jin, C. Kudo, T. Dalkara, M. A. Moskowitz, Suppression of cortical spreading depression in migraine prophylaxis. Ann. Neurol. 59, 652-661 (2006).
26. A. A. P. Leao, Pial circulation and spreading depression of activity in the cerebral cortex. J. Neurophysiol. 7, 391-396 (1944).
27. K. C. Brennan, L. Beltrán-Parrazal, H. E. López- Valdés, J. Theriot, A. W. Toga, A. C. Charles, Distinct vascular conduction with cortical spreading depression. J. Neurophysiol. 97, 4143-4151 (2007).
28. K. Eikermann-Haerter, E. Dileköz, C. Kudo, S. I. Savitz, C. Waeber, M. J. Baum, M. D. Ferrari, A. M. J. M. van den Maagdenberg, M. A. Moskowitz, C. Ayata, Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1. J. Clin. Invest. 119, 99-109 (2009).
29. J. Chuquet, L. Hollender, E. A. Nimchinsky, High-resolution in vivo imaging of the neurovascular unit during spreading depression. J. Neurosci. 27, 4036-4044 (2007).
30. C. D. Cooper, P. D. Lampe, Casein kinase 1 regulates connexin-43 gap junction assembly. J. Biol. Chem. 277, 44962-44968 (2002).
31. C. E. Stout, J. L. Costantin, C. C. Naus, A. C. Charles, Intercellular calcium signaling in astrocytes via ATP release through connexin hemichannels. J. Biol. Chem. 277, 10482-10488 (2002).
32. G. Arcuino, J. H. Lin, T. Takano, C. Liu, L. Jiang, Q. Gao, J. Kang, M. Nedergaard, Intercellular calcium signaling mediated by point-source burst release of ATP. Proc. Natl. Acad. Sci. U.S.A. 99, 9840-9845 (2002).
33. R. Burstein, B. Collins, M. Jakubowski, Defeating migraine pain with triptans: A race against the development of cutaneous allodynia. Ann. Neurol. 55, 19-26 (2004).
34. R. B. Lipton, M. E. Bigal, S. Ashina, R. Burstein, S. Silberstein, M. L. Reed, D. Serrano, W. F. Stewart; American Migraine Prevalence Prevention Advisory Group, Cutaneous allodynia in the migraine population. Ann. Neurol. 63, 148-158 (2008).
35. J. D. Classey, Y. E. Knight, P. J. Goadsby, The NMDA receptor antagonist MK-801 reduces Fos-like immunoreactivity within the trigeminocervical complex following superior sagittal sinus stimulation in the cat. Brain Res. 907, 117-124 (2001).
36. A. M. van den Maagdenberg, D. Pietrobon, T. Pizzorusso, S. Kaja, L. A. Broos, T. Cesetti, R. C. van de Ven, A. Tottene, J. van der Kaa, J. J. Plomp, R. R. Frants, M. D. Ferrari, A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron 41, 701-710 (2004).
37. L. Leo, L. Gherardini, V. Barone, M. De Fusco, D. Pietrobon, T. Pizzorusso, G. Casari, Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2. PLoS Genet. 7, e1002129 (2011).
38. T. A. Basarsky, S. N. Duffy, R. D. Andrew, B. A. MacVicar, Imaging spreading depression and associated intracellular calcium waves in brain slices. J. Neurosci. 18, 7189-7199 (1998).
39. 2+ waves and spreading depression in the mouse neocortex. J. Neurosci. 23, 9888-9896 (2003).
40. D. Attwell, A. M. Buchan, S. Charpak, M. Lauritzen, B. A. Macvicar, E. A. Newman, Glial and neuronal control of brain blood flow. Nature 468, 232-243 (2010).
41. Z. C. Ye, M. S. Wyeth, S. Baltan-Tekkok, B. R. Ransom, Functional hemichannels in astrocytes: A novel mechanism of glutamate release. J. Neurosci. 23, 3588-3596 (2003).
42. K. C. Brennan, A. Charles, Sleep and headache. Semin. Neurol. 29, 406-418 (2009).
43. F. van Oosterhout, S. Michel, T. Deboer, T. Houben, R. C. van de Ven, H. Albus, J. Westerhout, M. J. Vansteensel, M. D. Ferrari, A. M. van den Maagdenberg, J. H. Meijer, Enhanced circadian phase resetting in R192Q Cav2.1 calcium channel migraine mice. Ann. Neurol. 64, 315-324 (2008).
44. S. R. Chaplan, F. W. Bach, J. W. Pogrel, J. M. Chung, T. L. Yaksh, Quantitative assessment of tactile allodynia in the rat paw. J. Neurosci. Methods 53, 55-63 (1994).
45. K. Hargreaves, R. Dubner, F. Brown, C. Flores, J. Joris, A new and sensitive method for measuring thermal nociception in cutaneous hyperalgesia. Pain 32, 77-88 (1988).
46. N. W. Dunham, T. S. Miya, A note on a simple apparatus for detecting neurological deficit in rats and mice. J. Am. Pharm. Assoc. Am. Pharm. Assoc. 46, 208-209 (1957).
47. J. C. Chang, L. L. Shook, J. Biag, E. N. Nguyen, A. W. Toga, A. C. Charles, K. C. Brennan, Biphasic direct current shift, haemoglobin desaturation and neurovascular uncoupling in cortical spreading depression. Brain 133, 996-1012 (2010).
48. L. Beltran-Parrazal, H. E. López-Valdés, K. C. Brennan, M. Díaz-Muñoz, J. de Vellis, A. C. Charles, Mitochondrial transport in processes of cortical neurons is independent of intracellular calcium. Am. J. Physiol. Cell Physiol. 291, C1193-C1197 (2006).