Neurobiology of Aging
Volume 32, Issue 3 , Pages 550.e5-550.e9 , March 2011

Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort

  • José Luis Vázquez-Higuera

      Affiliations

    • Neurology Service and CIBERNED, “Marqués de Valdecilla” University Hospital (University of Cantabria), Avda. Valdecilla, 39008 Santander, Spain
    • ,
  • Ana Martínez-García

      Affiliations

    • Molecular Biology Department and CIBERNED, Centro de Biología Molecular Severo Ochoa (C.S.I.C.-U.A.M.), Madrid, Spain
    • ,
  • Pascual Sánchez-Juan

      Affiliations

    • Neurology Service and CIBERNED, “Marqués de Valdecilla” University Hospital (University of Cantabria), Avda. Valdecilla, 39008 Santander, Spain
    • ,
  • Eloy Rodríguez-Rodríguez

      Affiliations

    • Neurology Service and CIBERNED, “Marqués de Valdecilla” University Hospital (University of Cantabria), Avda. Valdecilla, 39008 Santander, Spain
    • ,
  • Ignacio Mateo

      Affiliations

    • Neurology Service and CIBERNED, “Marqués de Valdecilla” University Hospital (University of Cantabria), Avda. Valdecilla, 39008 Santander, Spain
    • ,
  • Ana Pozueta

      Affiliations

    • Neurology Service and CIBERNED, “Marqués de Valdecilla” University Hospital (University of Cantabria), Avda. Valdecilla, 39008 Santander, Spain
    • ,
  • Ana Frank

      Affiliations

    • Neurology Service and CIBERNED, Hospital Universitario La Paz (U.A.M.), Madrid, Spain
    • ,
  • Fernando Valdivieso

      Affiliations

    • Molecular Biology Department and CIBERNED, Centro de Biología Molecular Severo Ochoa (C.S.I.C.-U.A.M.), Madrid, Spain
    • ,
  • José Berciano

      Affiliations

    • Neurology Service and CIBERNED, “Marqués de Valdecilla” University Hospital (University of Cantabria), Avda. Valdecilla, 39008 Santander, Spain
    • ,
  • María J. Bullido

      Affiliations

    • Molecular Biology Department and CIBERNED, Centro de Biología Molecular Severo Ochoa (C.S.I.C.-U.A.M.), Madrid, Spain
    • ,
  • Onofre Combarros

      Affiliations

    • Neurology Service and CIBERNED, “Marqués de Valdecilla” University Hospital (University of Cantabria), Avda. Valdecilla, 39008 Santander, Spain
    • Corresponding Author InformationCorresponding author. Tel.: +34 942 202507; fax: +34 942 202655.

Received 10 July 2009 ,Revised 16 December 2009 ,Accepted 24 December 2009.

References 

  1. Arias-Vásquez A, Aulchenko YS, Isaacs A, van Oosterhout A, Sleegers K, Hofman A, et al. Cyclin-dependent kinase 5 is associated with risk for Alzheimer's disease in a Dutch population-based study. J. Neurol. 2008;255:655–662
  2. Bosco P, Caraci F, Copani A, Spada RS, Sortino MA, Salluzzo R, et al. The CDC2 I-G-T haplotype associated with the APOE ε4 allele increases the risk of sporadic Alzheimer's disease in Sicily. Neurosci. Lett. 2007;419:195–198
  3. García-Gorostiaga I, Sánchez-Juan P, Mateo I, Rodríguez-Rodríguez E, Sánchez-Quintana C, Curiel del Olmo S, et al. Glycogen synthase kinase-3β and tau genes interact in Parkinson's and Alzheimer's diseases. Ann. Neurol. 2009;65:759–761
  4. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat. Genet. 2009;41:1088–1093
  5. Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, et al. Mutation in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat. Genet. 2007;39:1434–1436
  6. Iqbal K, Grundke-Iqbal I. Alzheimer neurofibrillary degeneration: significance, etiopathogenesis, therapeutics and prevention. J. Cell. Mol. Med. 2008;12:38–55
  7. Iqbal K, Liu F, Gong CX, Alonso AC, Grundke-Iqbal I. Mechanisms of tau-induced neurodegeneration. Acta Neuropathol. 2009;118:53–69
  8. Johansson A, Zetterberg H, Hampel H, Buerger K, Prince JA, Minthon L, et al. Genetic association of CDC2 with cerebrospinal fluid tau in Alzheimer's disease. Dement. Geriatr. Cogn. Disord. 2005;20:367–374
  9. Kwok JBJ, Loy CT, Hamilton G, Lau E, Hallupp M, Williams J, et al. Glycogen synthase kinase-3β and tau genes interact in Alzheimer's disease. Ann. Neurol. 2008;64:446–454
  10. Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat. Genet. 2009;41:1094–1099
  11. Lebouvier T, Scales TM, Williamson R, Noble W, Duyckaerts C, Hanger DP, et al. The microtubule-associated protein tau is also phosphorylated on tyrosine. J. Alzheimer's Dis. 2009;18:1–9
  12. Mateo I, Infante J, Llorca J, Rodríguez E, Berciano J, Combarros O. Association between glycogen synthase kinase-3β genetic polymorphism and late-onset Alzheimer's disease. Dement. Geriatr. Cogn. Disord. 2006;21:228–232
  13. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer disease: report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer Disease. Neurology. 1984;24:939–944
  14. Sato S, Cerny RL, Buescher JL, Ikezu T. Tau-tubulin kinase 1 (TTBK1), a neuron-specific tau kinase candidate, is involved in tau phosphorylation and aggregation. J. Neurochem. 2006;98:1573–1584
  15. Sato S, Xu J, Okuyama S, Martinez LB, Walsh SM, Jacobsen MT, et al. Spatial learning impairment, enhanced CDK5/p35 activity, and downregulation of NMDA receptor expression in transgenic mice expressing tau-tubulin kinase 1. J. Neurosci. 2008;28:14511–14521
  16. Tomizawa K, Omori A, Ohtake A, Sato K, Takahashi M. Tau-tubulin kinase phosphorylates tau at Ser-208 and Ser-210, sites found in paired helical filament-tau. FEBS Lett. 2001;492:221–227
  17. Wang JZ, Liu F. Microtubule-associated protein tau in development, degeneration and protection of neurons. Prog. Neurobiol. 2008;85:148–175

PII: S0197-4580(10)00006-0

doi: 10.1016/j.neurobiolaging.2009.12.021

Neurobiology of Aging
Volume 32, Issue 3 , Pages 550.e5-550.e9 , March 2011

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