Migraine headache: A review of the molecular genetics of a common disorder

Journal of Headache and Pain

Volumn 13, Issue 7, 2012, Pages 571-580

  Di Lorenzo, Cherubino ^a   Grieco, Gaetano S ^b   Santorelli, Filippo M ^c,d  

^a IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^d UNIVERSITY OF PISA   (Italy)

Author keywords

CADASIL; Familial hemiplegic migraine (FHM); Genetics; MELAS; Migraine; Pharmacogenomics

Indexed keywords

ARTICLE; FAMILIAL HEMIPLEGIC MIGRAINE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC VARIABILITY; HUMAN; MIGRAINE; MOLECULAR GENETICS; MONOGENIC DISORDER; PHARMACOGENOMICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIGRAINE DISORDERS; MOLECULAR BIOLOGY; PHARMACOGENETICS;

EID: 84870384265     PISSN: 11292369     EISSN: 11292377     Source Type: Journal    
DOI: 10.1007/s10194-012-0478-x     Document Type: Article

References (75)

1. Headache Classification Subcommittee of the International Headache Society (2004) The international classification of headache disorders: 2nd edn. Cephalalgia 24(Suppl 1):1-160
2. D'Amico D, Tepper SJ (2008) Prophylaxis of migraine: General principles and patient acceptance. Neuropsychiatr Dis Treat 4(6):1155-1167
3. Kruit MC, van Buchem MA, Hofman PA, Bakkers JT, Terwindt GM, Ferrari MD, Launer LJ (2004) Migraine as a risk factor for subclinical brain lesions. JAMA 291(4):427-434
4. Eikermann-Haerter K, Moskowitz MA (2008) Animal models of migraine headache and aura. Curr Opin Neurol 21(3):294-300
5. Leonardi M, Steiner TJ, Scher AT, Lipton RB (2005) The global burden of migraine: Measuring disability in headache disorders with WHO's Classification of Functioning, Disability and Health (ICF). J Headache Pain 6(6):429-440
6. Bigal ME, Lipton RB (2009) The epidemiology, burden, and comorbidities of migraine. Neurol Clin 27:321-334
7. World Health Organization. (2001) World Health Report 2001: Mental health: New understanding, new hope. http://www.who. int/whr/2001/en/index.html. Accessed 20 May 2012
8. Winner P, Hershey AD (2007) Epidemiology and diagnosis of migraine in children. Curr Pain Headache Rep 11(5):375-382
9. Schürks M (2012) Genetics of migraine in the age of genomewide association studies. J Headache Pain 13(1):1-9
10. Wallance DC, Fan W (2010) Energetics, epigenetics, mitochondrial genetics. Mitochondrion 10:12-31
11. Thomsen LL, Eriksen MK, Roemer SF, Andersen I, Olesen J, Russell MB (2002) A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria. Brain 125(Pt 6):1379-1391
12. Joutel A, Bousser M-G, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach M-A, Weissenbach J, Lathrop GM, Tournier-Lasserve E (1993) A gene for familial hemiplegic migraine maps to chromosome 19. Nature Genet 5(1):40-45
13. Thomsen LL, Ostergaard E, Romer SF, Andersen I, Eriksen MK, Olesen J, Russell MB (2003) Sporadic hemiplegic migraine is an aetiologically heterogeneous disorder. Cephalalgia 23(9):921-928
14. Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2? channel gene CACNL1A4. Cell 87(3):543-552
15. Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M (1997) Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 6(11):1973-1978
16. Guerin AA, Feigenbaum A, Donner EJ, Yoon G (2008) Stepwise developmental regression associated with novel CACNA1A mutation. Pediatr Neurol 39(5):363-364
17. Westenbroek RE, Sakurai T, Elliott EM, Hell JW, Starr TV, Snutch TP, Catterall WA (1995) Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels. J Neurosci 15(10):6403-6418
18. van den Maagdenberg AM, Pietrobon D, Pizzorusso T, Kaja S, Broos LA, Cesetti T, van de Ven RC, Tottene A, van der Kaa J, Plomp JJ, Frants RR, Ferrari MD (2004) A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron 41(5):701-710
19. De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G (2003) Haploinsufficiency of ATP1A2 encoding the Na?/K? pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33:192-196
20. Jurkat-Rott K, Freilinger T, Dreier JP, Herzog J, Gobel H, Petzold GC, Montagna P, Gasser T, Lehmann-Horn F, Dichgans M (2004) Variability of familial hemiplegic migraine with novel A1A2 Na(?)/K(?)-ATPase variants. Neurology 62(10):1857-1861
21. Kaunisto MA, Harno H, Kallela M, Somer H, Sallinen R, Hämäläinen E, Miettinen PJ, Vesa J, Orpana A, Palotie A, Färkkilä M, Wessman M (2004) Novel splice site CACNA1A mutation causing episodic ataxia type 2. Neurogenetics 5(1):69-73
22. Pierelli F, Grieco GS, Pauri F, Pirro C, Fiermonte G, Ambrosini A, Costa A, Buzzi MG, Valoppi M, Caltagirone C, Nappi G, Santorelli FM (2006) A novel ATP1A2 mutation in a family with FHM type II. Cephalalgia 26(3):324-328
23. Santoro L, Manganelli F, Fortunato MR, Soldovieri MV, Ambrosino P, Iodice R, Pisciotta C, Tessa A, Santorelli F, Taglialatela M (2011) A new Italian FHM2 family: Clinical aspects and functional analysis of the disease-associated mutation. Cephalalgia 31(7):808-819
24. Spadaro M, Ursu S, Lehmann-Horn F, Veneziano L, Antonini G, Giunti P, Frontali M, Jurkat-Rott K (2004) A G301R Na?/K?-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Neurogenetics 5(3):177-185
25. Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM (2003) Novel mutations in the Na?, K?-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 54(3):360-366
26. Deprez L, Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P (2008) Epilepsy as part of the phenotype associated with ATP1A2 mutations. Epilepsia 49(3): 500-508
27. Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S (2004) Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol 55(6):884-887
28. Vanmolkot KR, Stroink H, Koenderink JB, Kors EE, van den Heuvel JJ, van den Boogerd EH, Stam AH, Haan J, De Vries BB, Terwindt GM, Frants RR, Ferrari MD, van den Maagdenberg AM (2006) Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Ann Neurol 59(2):310-314
29. Ambrosini A, D'Onofrio M, Grieco GS, Di Mambro A, Montagna G, Fortini D, Nicoletti F, Nappi G, Sances G, Schoenen J, Buzzi MG, Santorelli FM, Pierelli F (2005) Familial basilar migraine associated with a new mutation in the ATP1A2 gene. Neurology 66(11):1826-1828
30. Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Göbel H, Kubisch C (2005) Rare missense variants in ATP1A2 in families with clustering of common forms of migraine. Hum Mutat 26(4):315-321
31. Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM (2005) Mutations in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366(9483):371-377
32. Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM (2007) The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: Genetic and functional studies. Mutation in brief #957. Online. Hum Mutat 28(5):522
33. Castro MJ, Stam AH, Lemos C, de Vries B, Vanmolkot KR, Barros J, Terwindt GM, Frants RR, Sequeiros J, Ferrari MD, Pereira-Monteiro JM, van den Maagdenberg AM (2009) First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. Cephalalgia 29(3):308-313
34. Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, Trouillard O, Gaudric A, Morris MA, LeGuern E, Tournier-Lasserve E, Bousser M-G (2009) Elicited repetitive daily blindness: A new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology 72(13):1178-1183
35. Meisler MH, Kearney JA (2005) Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest 115(8): 2010-2017
36. Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA (2005) SCN1A mutations and epilepsy. Hum Mutat 25(6):535-542
37. Le Fort D, Safran AB, Picard F, Bochardy I, Morris MA (2004) Elicited repetitive daily blindness: A new familial disorder related to migraine and epilepsy. Neurology 63(2):348-350
38. Weir GA, Cader MZ (2011) New directions in migraine. BMC Med 9:116
39. Ottman R, Lipton RB (1994) Comorbidity of migraine and epilepsy. Neurology 44(11):2105-2110
40. Pietrobon D (2007) Familial hemiplegic migraine. Neurotherapeutics 4(2):274-284
41. Hans M, Luvisetto S, Williams ME, Spagnolo M, Urrutia A, Tottene A, Brust PF, Johnson EC, Harpold MM, Stauderman KA, Pietrobon D (1999) Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. J Neurosci 19(5):1610-1619
42. Tottene A, Pivotto F, Fellin T, Cesetti T, van den Maagdenberg AM, Pietrobon D (2005) Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma. J Biol Chem 280(18):17678-17686
43. Segall L, Scanzano R, Kaunisto MA, Wessman M, Palotie A, Gargus JJ, Blostein R (2004) Kinetic alterations due to a missense mutation in the Na, K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2. J Biol Chem 279(42):43692-43696
44. Segall L, Mezzetti A, Scanzano R, Gargus JJ, Purisima E, Blostein R (2005) Alterations in the alpha2 isoform of Na, K-ATPase associated with familial hemiplegic migraine type 2. Proc Natl Acad Sci USA 102(31):11106-11111
45. Tavraz NN, Friedrich T, Dürr KL, Koenderink JB, Bamberg E, Freilinger T, Dichgans M (2008) Diverse functional consequences of mutations in the Na?/K?-ATPase alpha2-subunit causing familial hemiplegic migraine type 2. J Biol Chem 283(45):31097-31106
46. Ikeda K, Onaka T, Yamakado M, Nakai J, Ishikawa TO, Taketo MM, Kawakami K (2003) Degeneration of the amygdala/piriform cortex and enhanced fear/anxiety behaviors in sodium pump alpha2 subunit (Atp1a2)-deficient mice. J Neurosci 23(11):4667-4676
47. Cestèle S, Scalmani P, Rusconi R, Terragni B, Franceschetti S, Mantegazza M (2008) Self-limited hyperexcitability: Functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na? channel. J Neurosci 28(29):7273-7283
48. Ferrari MD, Goadsby PJ (2007) Migraine as a cerebral ionopathy with abnormal central sensory processing. In: Gilman S (ed) Neurobiology of disease. Elsevier Academic Press, San Diego, pp 333-348
49. Nyholt DR, LaForge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, Ferrari MD, Launer LJ, Frants RR, Terwindt GM, de Vries B, Verschuren WM, Brand J, Freilinger T, Pfaffenrath V, Straube A, Ballinger DG, Zhan Y, Daly MJ, Cox DR, Dichgans M, van den Maagdenberg AM, Kubisch C, Martin NG, Wessman M, Peltonen L, Palotie A (2008) A high-density association screen of 155 ion transport genes for involvement with common migraine. Hum Mol Genet 17(21):3318-3331
50. Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger G, Ebke M, Klockgether T, Gasser T (1998) The phenotypic spectrum of CADASIL: Clinical findings in 102 cases. Ann Neurol 44(5):731-739
51. Roine S, Poyhonen M, Timonen S, Tuisku S, Marttila R, Sulkava R, Kalimo H, Viitanen M (2005) Neurologic symptoms are common during gestation and puerperium in CADASIL. Neurology 64(8):1441-1443
52. Feuerhake F, Volk B, Ostertag CB, Jungling FD, Kassubek J, Orszagh M, Dichgans M (2002) Reversible coma with raised intracranial pressure: An unusual clinical manifestation of CADASIL. Acta Neuropathol (Berl) 103(2):188-192
53. Haritoglou C, Rudolph G, Hoops JP, Opherk C, Kampik A, Dichgans M (2004) Retinal vascular abnormalities in CADASIL. Neurology 62(7):1202-1205
54. Cumurciuc R, Henry P, Gobron C, Vicaut E, Bousser MG, Chabriat H, Vahedi K (2006) Electrocardiogram in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients without any clinical evidence of coronary artery disease: A case-control study. Stroke 37(4):1100-1102
55. Menon S, Cox HC, Kuwahata M, Quinlan S, MacMillan JC, Haupt LM, Lea RA, Griffiths LR (2011) Association of a Notch 3 gene polymorphism with migraine susceptibility. Cephalalgia 31(3):264-270
56. Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, SprouleDM, Battista V, KoenigsbergerDY, Pascual JM, Shanske S, Sano M, Mao X, Hirano M, Shungu DC, Dimauro S, De Vivo DC (2011) Natural history of MELAS associated with mitochondrial DNA m.3243A[G genotype. Neurology 77(22):1965-1971
57. Sproule DM, Kaufmann P (2008) Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: Basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann NY Acad Sci 1142:133-158
58. Maher BH, Griffiths LR (2011) Identification of molecular genetic factors that influence migraine. Mol Genet Genomics 285:433-446
59. Lafrenière RG, Cader MZ, Poulin JF, Andres-Enguix I, Simoneau M, Gupta N, Boisvert K, Lafrenière F, McLaughlan S, Dubé MP, Marcinkiewicz MM, Ramagopalan S, Ansorge O, Brais B, Sequeiros J, Pereira-Monteiro JM, Griffiths LR, Tucker SJ, Ebers G, Rouleau GA (2010) A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nat Med 16(10):1157-1160
60. Cox HC, Lea RA, Bellis C, Nyholt DR, Dyer TD, Haupt LM, Charlesworth J, Matovinovic E, Blangero J, Griffiths LR (2012) Heritability and genome-wide linkage analysis of migraine in the genetic isolate of Norfolk Island. Gene 494(1):119-123
61. Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt GM, Pozo-Rosich P, Winsvold B, Nyholt DR, van Oosterhout WP, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter MA, Kaunisto MA, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden AG, Hofman A, Rivadeneira F, Heinze A, Tronvik E, van Duijn CM, Kaprio J, Cormand B, Wessman M, Frants RR, Meitinger T, Müller-Myhsok B, Zwart JA, Färkkilä M, Macaya A, Ferrari MD, Kubisch C, Palotie A, Dichgans M, van den Maagdenberg AM, International Headache Genetics Consortium (2012) Genomewide association analysis identifies susceptibility loci for migraine without aura. Nat Genet 44(7):777-782
62. de Vries B, Frants RR, Ferrari MD, van den Maagdenberg AM (2009) Molecular genetics of migraine. Hum Genet 126(1): 115-132
63. Bhinge AA, Kim J, Euskirchen GM, Snyder M, Iyer VR (2007) Mapping the chromosomal targets of STAT1 by sequence tag analysis of genomic enrichment (STAGE). Genome Res 17(6): 910-916
64. Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Koenig M, Kong C, Landers T, Le C, Liu J, McBride CE, Morenzoni M, Morey RE, Mutch K, Perazich H, Perry K, Peters BA, Peterson J, Pethiyagoda CL, Pothuraju K, Richter C, Rosenbaum AM, Roy S, Shafto J, Sharanhovich U, Shannon KW, Sheppy CG, Sun M, Thakuria JV, Tran A, Vu D, Zaranek AW, Wu X, Drmanac S, Oliphant AR, Banyai WC, Martin B, Ballinger DG, Church GM, Reid CA (2010) Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327(5961):78-81
65. Negro A, Rocchietti-March M, Fiorillo M, Martelletti P (2011) Chronic migraine: Current concepts and ongoing treatments. Eur Rev Med Pharmacol Sci 15(12):1401-1420
66. Coppola G, Schoenen J (2012) Cortical excitability in chronic migraine. Curr Pain Headache Rep 16(1):93-100
67. Cevoli S, Marzocchi N, Capellari S, Scapoli C, Pierangeli G, Grimaldi D, Naldi F, Pini LA, Montagna P, Cortelli P (2010) Lack of association between five serotonin metabolism-related genes and medication overuse headache. J Headache Pain 11(1):53-58
68. Terrazzino S, Sances G, Balsamo F, Viana M, Monaco F, Bellomo G, Martignoni E, Tassorelli C, Nappi G, Canonico PL, Genazzani AA (2010) Role of 2 common variants of 5HT2A gene in medication overuse headache. Headache 50(10):1587-1596
69. Gentile G, Borro M, Lala N, Missori S, Simmaco M, Martelletti P (2010) Genetic polymorphisms related to efficacy and overuse of triptans in chronic migraine. J Headache Pain 11(5):431-435
70. Di Lorenzo C, Sances G, Di Lorenzo G, Rengo C, Ghiotto N, Guaschino E, Perrotta A, Santorelli FM, Grieco GS, Troisi A, Siracusano A, Pierelli F, Nappi G, Casali C (2007) The wolframin His611Arg polymorphism influences medication overuse headache. Neurosci Lett 424(3):179-184
71. Di Lorenzo C, Di Lorenzo G, Sances G, Ghiotto N, Guaschino E, Grieco GS, Santorelli FM, Casali C, Troisi A, Siracusano A, Pierelli F (2009) Drug consumption in medication overuse headache is influenced by brain-derived neurotrophic factor Val66Met polymorphism. J Headache Pain 10(5):349-355
72. Di Lorenzo C, Pierelli F, Coppola G, Grieco GS, Rengo C, Ciccolella M, Magis D, Bolla M, Casali C, Santorelli FM, Schoenen J (2009) Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs. Neurology 72(18):1588-1594
73. Gentile G, Borro M, Simmaco M, Missori S, Lala N, Martelletti P (2011) Gene polymorphisms involved in triptans pharmacokinetics and pharmacodynamics in migraine therapy. Expert Opin Drug Metab Toxicol 7(1):39-47
74. Chan A, Pirmohamed M, Comabella M (2011) Pharmacogenomics in neurology: Current state and future steps. Ann Neurol 70(5):684-697
75. Tronvik E, Stovner LJ, Bovim G, White LR, Gladwin AJ, Owen K, Schrader H (2008) Angiotensin-converting enzyme gene insertion/deletion polymorphism in migraine patients. BMC Neurol 8:4