Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han Chinese

Neuroscience Letters

Volumn 491, Issue 1, 2011, Pages 83-86

  Yu, Nan Nan ^a   Yu, Jin Tai ^a   Xiao, Jian Ting ^b   Zhang, Hao Wen ^c   Lu, Rui Chun ^a   Jiang, Hong ^b   Xing, Zhen Hua ^a   Tan, Lan ^a  

^a QINGDAO UNIVERSITY   (China)

^b QINGDAO UNIVERSITY MEDICAL COLLEGE   (China)

^c People's Hospital of Laixi City   (China)

Author keywords

Alzheimer's disease; Genetic association; Polymorphism; Tau tubulin kinase 1 (TTBK1)

Indexed keywords

APOLIPOPROTEIN E; TAU TUBULIN KINASE 1; TUBULIN; UNCLASSIFIED DRUG;

AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CASE CONTROL STUDY; CHINESE; COHORT ANALYSIS; CONTROLLED STUDY; ETHNIC GROUP; FEMALE; GENE FUNCTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAN CHINESE; HAPLOTYPE; HUMAN; LATE ONSET ALZHEIMER DISEASE; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TAU TUBULIN KINASE 1 GENE;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN CHEMISTRY; CASE-CONTROL STUDIES; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; POLYMORPHISM, GENETIC; PROTEIN-SERINE-THREONINE KINASES;

EID: 79951514142     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2011.01.011     Document Type: Article

References (39)

1. Arriagada P.V., Growdon J.H., Hedley-Whyte E.T., Hyman B.T. Neurofibrillary tangles but not senile plaques parallel duration and severity of Alzheimer's disease. Neurology 1992, 42:631-639.
2. Avila J. Tau phosphorylation and aggregation in Alzheimer's disease pathology. FEBS Lett. 2006, 580:2922-2927.
3. Buee L., Bussiere T., Buee-Scherrer V., Delacourte A., Hof P.R. Tau protein isoforms, phosphorylation and role in neuro-degenerative disorders. Brain Res. Rev. 2000, 33:95-130.
4. Caceres A., Kosik K.S. Inhibition of neurite polarity by tau antisense oligonucleotides in primary cerebellar neurons. Nature 1990, 343:461-463.
5. Caceres A., Potrebic S., Kosik K.S. The effect of tau antisense oligonucleotides on neurite formation of cultured cerebellar macroneurons. J. Neurosci. 1991, 11:1515-1523.
6. Churcher I. Tau therapeutic strategies for the treatment of Alzheimer's disease. Curr. Top. Med. Chem. 2006, 6:579-595.
7. Donohoe G.G., Salomäki A., Lehtimäki T., Pulkki K., Kairisto1 V. Rapid identification of apolipoprotein E genotypes by multiplex amplification refractory mutation system PCR and capillary gel electrophoresis. Clin. Chem. 1999, 45:143-146.
8. Ebneth A., Godemann R., Stamer K., Illenberger S., Trinczek B., Mandelkow E. Overexpression of tau protein inhibits kinesin dependent trafficking of vesicles, mitochondria, and endoplasmic reticulum: implications for Alzheimer's disease. J. Cell Biol. 1998, 143:777-794.
9. Gong C.X., Liu F., Grundke-Iqbal I., Iqbal K. Post-translational modifications of tau protein in Alzheimer's disease. J. Neural. Transm. 2005, 112:813-838.
10. Gorath M., Stahnke T., Mronga T., Goldbaum O., Richter-Landsberg C. Developmental changes of tau protein and mRNA in cultured rat brain oligodendrocytes. Glia 2001, 36:89-101.
11. Gregoire J.M., Romeo P.H. T-cell expression of the human GATA-3 gene is regulated by a non-lineage-specific silencer. J. Biol. Chem. 1999, 274:6567-6578.
12. Grundke-Iqbal I., Iqbal K., Tung Y.C., Quinlan M., Wisniewski H.M., Binder L.I. Abnormal phosphorylation of the micro-tubule-associated protein tau (tau) in Alzheimer cytoskeletal pathology. Proc. Natl. Acad. Sci. U.S.A. 1986, 83:4913-4917.
13. Houlden H., Johnson J., Gardner-Thorpe C., Lashley T., Hernandez D., Worth P., Singleton A.B., Hilton D.A., Holton J., Revesz T., Davis M.B., Giunti P., Wood N.W. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat. Genet. 2007, 39:1434-1436.
14. Iqbal K., Grundke-Iqbal I. Inhibition of neurofibrillary degeneration: a promising approach to Alzheimer's disease and other tauopathies. Curr. Drug Targets 2004, 5:495-502.
15. Iqbal K., Grundke-Iqbal I. Developing pharmacological therapies for Alzheimer disease. Cell. Mol. Life Sci. 2007, 64:2234-2244.
16. Iqbal K., Grundke-Iqbal I. Alzheimer neurofibrillary degeneration: significance, etiopathogenesis, therapeutics and prevention. J. Cell. Mol. Med. 2008, 12:38-55.
17. Iqbal K., Liu F., Gong C.X., Alonso A.C., Grundke-Iqbal I. Mechanisms of tau-induced neurodegeneration. Acta Neuropathol. 2009, 118:53-69.
18. Kim C.H., Kim H.S., Cubells J.F., Kim K.S. A previously undescribed intron and extensive 5′ upstream sequence, but not Phox2a-mediated transactivation, are necessary for high level cell type-specific expression of the human norepinephrine transporter gene. J. Biol. Chem. 1999, 274:6507-6518.
19. Kitano-Takahashi M., Morita H., Kondo S., Tomizawa K., Kato R., Tanio M., Shirota Y., Takahashi H., Sugio S., Kohno T. Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau protein. Acta Crystallogr. Sect. F: Struct. Biol. Cryst. Commun. 2007, 63:602-604.
20. Klein C., Kramer E.M., Cardine A.M., Schraven B., Brandt R., Trotter J. Process outgrowth of oligodendrocytes is promoted by interaction of fyn kinase with the cytoskeletal protein tau. J. Neurosci. 2002, 22:698-707.
21. Knops J., Kosik K.S., Lee G., Pardee J.D., Cohen-Gould L., McConlogue L. Overexpression of tau in a nonneuronal cell induces long cellular processes. J. Cell Biol. 1991, 114:725-733.
22. Kraemer B.C., Burgess J.K., Chen J.H., Thomas J.H., Schellenberg G.D. Molecular pathways that influence human tau-induced pathology in Caenorhabditis elegans. Hum. Mol. Genet. 2006, 15:483-1496.
23. Lee V.M. Disruption of the cytoskeleton in Alzheimer's disease. Curr. Opin. Neurobiol. 1995, 5:663-668.
24. Lee V.M., Goedert M., Trojanowski J.Q. Neurodegenerative tauopathies. Annu. Rev. Neurosci. 2001, 24:1121-1159.
25. Mazanetz M.P., Fischer P.M. Untangling tau hyperphosphorylation in drug design for neurodegenerative diseases. Nat. Rev. Drug Discov. 2007, 6:464-479.
26. McKhann G., Drachman D., Folstein M., Katzman R., Price D., Stadlan E.M. Clinical diagnosis of Alzheimer's disease: report of the NINCDSADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984, 34:939-944.
27. Oddo S., Billings L., Kesslak J.P., Cribbs D.H., LaFerla F.M. Abeta immunotherapy leads to clearance of early, but not late, hyperphosphorylated tau aggregates via the proteasome. Neuron 2004, 43:321-332.
28. Prada A.E., Zahedi K., Davis A.E. Regulation of C1 inhibitor synthesis. Immunobiology 1998, 199:377-388.
29. Querfurth H.W., LaFerla F.M. Alzheimer's disease. New Engl. J. Med. 2010, 362:329-344.
30. Sato S., Cerny R.L., Buescher J.L., 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.
31. Sato S., Xu J., Okuyama S., Martinez L.B., Walsh S.M., Jacobsen M.T., Swan R.J., Schlautman J.D., Ciborowski P., Ikezu T. Spatial learning impairment, enhanced CDK5/p35 activity, and down regulation of NMDA receptor expression in transgenic mice expressing tau-tubulin kinase 1. J. Neurosci. 2008, 28:14511-14521.
32. Tomizawa K., Omori A., Ohtake A., Sato K., Takahashi M. Tau-tubulin kinase phosphorylates tau at Ser-208 and Ser-210, sites found inpaired helical filament-tau. FEBS Lett. 2001, 492:221-227.
33. Vázquez-Higuera J.L., Martínez-García A., Sánchez-Juan P., Rodríguez-Rodríguez E., Mateo I., Pozueta A., Frank A., Valdivieso F., Berciano J., Bullido M.J., Combarros O. Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort. Neurobiol. Aging 2010, (January 20). [Epub ahead of print].
34. Wang J.Z., Liu F. Microtubule-associated protein tau in development, degeneration and protection of neurons. Prog. Neurobiol. 2008, 85:148-175.
35. Xu J., Sato S., Okuyama S., Swan R.J., Jacobsen M.T., Strunk E., Ikezu T. Tau-tubulin kinase 1 enhances prefibrillar tau aggregation and motor neuron degeneration in P301L FTDP-17 tau-mutant mice. FASEB J. 2010, 24:2904-2915.
36. +/calmodulin-dependent protein kinase II in its tubulin binding sites. Arch. Biochem. Biophys. 2002, 408:255-262.
37. Yu J.T., Chang R.C., Tan L. Calcium dysregulation in Alzheimer's disease: from mechanisms to therapeutic opportunities. Prog. Neurobiol. 2009, 89:240-255.
38. Yu N.N., Wang X.X., Yu J.T., Wang N.D., Lu R.C., Miao D., Tian Y., Tan L. Blocking beta2-adrenergic receptor attenuates acute stress-induced amyloid beta peptides production. Brain Res. 2010, 1317:305-310.
39. Yu J.T., Li L., Zhu Q.X., Zhang Q., Zhang W., Wu Z.C., Guan J., Tan L. Implication of CLU gene polymorphisms in Chinese patients with Alzheimer's disease. Clin. Chim. Acta 2010, 411:1516-1519.