Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

Neurobiology of Aging

Volumn 32, Issue 4, 2011, Pages 757.e1-757.e11

  Anfossi, Maria ^a   Vuono, Romina ^b   Maletta, Raffaele ^a   Virdee, Kanwar ^c   Mirabelli, Maria ^a   Colao, Rosanna ^a   Puccio, Gianfranco ^a   Bernardi, Livia ^a   Frangipane, Francesca ^a   Gallo, Maura ^a   Geracitano, Silvana ^a   Tomaino, Carmine ^a   Curcio, Sabrina Anna Maria ^a   Zannino, Giuseppa ^d   Lamenza, Francesco ^d   Duyckaerts, Charles ^e   Spillantini, Maria Grazia ^c   Losso, Maria Adele ^b   Bruni, Amalia C ^a  

^a ASP Catanzaro   (Italy)

^b UNIVERSITY OF CALABRIA   (Italy)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d ASP of Cosenza   (Italy)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

3Rtau isoforms; MAPT gene; Neurodegeneration; Novel intronic mutations; Pick's disease

Indexed keywords

ADENINE; CYTOSINE; ISOPROTEIN; MESSENGER RNA; TAU PROTEIN; THYMINE;

ADULT; ARTICLE; CASE REPORT; DISEASE TRANSMISSION; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE CONSTRUCT; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; MAPT GENE; MOLECULAR GENETICS; ONSET AGE; PGRN GENE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RNA SPLICING;

EID: 79953066738     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2010.12.013     Document Type: Article

References (45)

1. Berget S.M. Exon recognition in vertebrate splicing. J.Biol. Chem 1995, 270:2411-2414.
2. Black D.L. Mechanisms of alternative pre-messenger RNA splicing. Annu. Rev. Biochem 2003, 72:291-336.
3. Bronner I.F., ter Meulen B.C., Azmani A., Severijnen L.A., Willemsen R., Kamphorst W., Ravid R., Heutink P., van Swieten J.C. Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology. Brain 2005, 128:2645-2653.
4. Bruni A.C., Kawarai T., Spillantini M.G., St.George Hyslop P.H., Leotta A., Lio S., Foncin J.F., El Hachimi K.H. Démence fronto-temporale familiale avec inclusions marquees par l'antiubiquitine dans Le tronc cérébral. Reveu Neurologique 2004, 160:1130-1139.
5. Carlesimo G.A., Caltagirone C., Gainotti G. The Mental Deterioration Battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The Group for the Standardization of the Mental Deterioration Battery. Eur. Neurol 1996, 36:378-384.
6. Cooper T.A. Use of minigene systems to dissect alternative splicing elements. Methods 2005, 37:331-340.
7. Di Fede G., Catania M., Morbin M., Rossi G., Suardi S., Mazzoleni G., Merlin M., Giovagnoli A.R., Prioni S., Erbetta A., Falcone C., Gobbi M., Colombo L., Bastone A., Beeg M., Manzoni C., Francescucci B., Spagnoli A., Cantù L., Del Favero E., Levy E., Salmona M., Tagliavini F. A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. Science 2009, 13:1473-1477.
8. Dong C.F., Shi S., Wang X.F., An R., Li P., Chen J.M., Wang X., Wang G.R., Shan B., Zhang B.Y., Han J., Dong X.P. The N-terminus of PrP is responsible for interacting with tubulin and fCJD related PrP mutants possess stronger inhibitive effect on microtubule assembly in vitro. Arch. Biochem. Biophys 2008, 470., 83-92.
9. D'Souza I., Poorkaj P., Hong M., Nochlin D., Lee V.M., Bird T.D., Schellenberg G.D. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc. Natl. Acad. Sci. U. S. A 1999, 96:5598-5603.
10. D'Souza I., Schellenberg G.D. Tau exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5. J. Biol. Chem 2002, 277:26587-26599.
11. D'Souza I., Schellenberg G.D. Regulation of tau isoform expression and dementia. Biochim. Biophys. Acta 2005, 1739:104-115.
12. Gasparini L., Terni B., Spillantini M.G. Frontotemporal dementia with tau pathology. Neurodegener. Dis 2007, 4:236-253.
13. Goedert M. Tau gene mutations and their effects. Mov. Disord 2005, 20:S45-S52.
14. Goedert M., Jakes R. Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization. EMBO J 1990, 9:4225-4230.
15. Goedert M., Spillantini M.G., Cairns N.J., Crowther R.A. Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all 6 brain isoforms. Neuron 1992, 8:159-168.
16. Hayashi S., Toyoshima Y., Hasegawa M., Umeda Y., Wakabayashi K., Tokiguchi S., Iwatsubo T., Takahashi H. Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. Ann. Neurol 2002, 51:525-530.
17. Hutton M., Lendon C.L., Rizzu P., Baker M., Froelich S., Houlden H., Pickering-Brown S., Chakraverty S., Isaacs A., Grover A., Hackett J., Adamson J., Lincoln S., Dickson D., Davies P., Petersen R.C., Stevens M., de Graaff E., Wauters E., van Baren Hillebrand M., Joosse M., Kwon J.M., Nowotny P., Che L.K., Norton J., Morris J.C., Reed L.A., Trojanowski J., Basun H., Lannfelt L., Neystat M., Fahn S., Dark F., Tannenberg T., Dodd P.R., Hayward N., Kwok J.B., Schofield P.R., Andreadis A., Snowden J., Craufurd D., Neary D., Owen F.L., Oostra B.A., Hardy J., Goate A., van Swieten J., Mann D., Lynch T., Heutink P. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998, 393:702-705.
18. Jiang Z., Cote J., Kwon J.M., Goate A.M., Wu J.Y. Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17. Mol. Cell. Biol 2000, 20:4036-4048.
19. Kumar-Singh S., Van, Broeckhoven C. Frontotemporal lobar degeneration: current concepts in the light of recent advances. Brain Pathol 2007, 17:104-114.
20. Lee V.M., Goedert M., Trojanowski J.Q. Neurodegenerative tauopathies. Annu. Rev. Neurosci 2001, 24:1121-1159.
21. Mackenzie I.R., Neumann M., Bigio E.H., Cairns N.J., Alafuzoff I., Kril J., Kovacs G.G., Ghetti B., Halliday G., Holm I.E., Ince P.G., Kamphorst W., Revesz T., Rozemuller A.J., Kumar-Singh S., Akiyama H., Baborie A., Spina S., Dickson D.W., Trojanowski J.Q., Mann D.M. Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol 2009, 117:15-18.
22. Makrides V., Massie M.R., Feinstein S.C., Lew J. Evidence for 2 distinct binding sites for tau on microtubules. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:6746-6751.
23. Malkani R., D'Souza I., Gwinn-Hardy K., Schellenberg G.D., Hardy J., Momeni P.A. MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia. Neurobiol. Dis 2006, 22:401-403.
24. Momeni P., Pittman A., Lashley T., Vandrovcova J., Malzer E., Luk C., Hulette C., Lees A., Revesz T., Hardy J., de Silva R. Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation. Neurobiol. Aging 2009, 30:388-393.
25. Moreno F., Alzualde A., Camblor P.M., Barandiaran M., Van Deerlin V.M., Gabilondo A., Martí Massó J.F., de Munain A.L., Indakoetxea B. Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G > A progranulin mutation. Alzheimer Dis. Assoc. Disord. 2010, doi: 10.1097/WAD.0b013e3181eff695.
26. Murrell J.R., Spillantini M.G., Zolo P., Guazzelli M., Smith M.J., Hasegawa M., Redi F., Crowther R.A., Pietrini P., Ghetti B., Goedert M. Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. J. Neuropathol. Exp. Neurol 1999, 58:1207-1226.
27. Neary D., Snowden J.S., Gustafson L., Passant U., Stuss D., Black S., Freedman M., Kertesz A., Robert P.H., Albert M., Boone K., Miller B.L., Cummings J., Benson D.F. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998, 51:1546-1554.
28. Neumann M., Diekmann S., Bertsch U., Vanmassenhove B., Bogerts B., Kretzschmar H.A. Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia. Neurogenetics 2005, 6:91-95.
29. Neumann M., Tolnay M., Mackenzie I.R. The molecular basis of frontotemporal dementia. Expert Rev. Mol. Med 2009, 11:e23.
30. Neumann M.R., Rademakers R., Roeber S., Baker M., Kretzschmar H.A., Mackenzie I.R. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 2009, 132:2922-2931.
31. Pham N., Yin S., Yu S., Wong P., Kang S.C., Li C., Sy M.S. Normal cellular prion protein with a methionine at position 129 has a more exposed helix 1 and is more prone to aggregate. Biochem. Biophys. Res. Commun 2008, 368:875-881.
32. Pickering-Brown S., Baker M., Yen S.H., Liu W.K., Hasegawa M., Cairns N., Lantos P.L., Rossor M., Iwatsubo T., Davies Y., Allsop D., Furlong R., Owen F.L., Hardy J., Mann D., Hutton M. Pick's disease is associated with mutations in the tau gene. Ann. Neurol 2000, 48:859-867.
33. Poorkaj P., Bird T.D., Wijsman E., Nemens E., Garruto R.M., Anderson L., Andreadis A., Wiederholt W.C., Raskind M., Schellenberg G.D. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann. Neurol 1998, 43:815-825.
34. Probst A., Tolnay M., Langui D., Goedert M., Spillantini M.G. Pick's disease: hyperphosphorylated tau protein segregates to the somatoaxonal compartment. Acta Neuropathol 1996, 92:588-596.
35. Reed R. Mechanisms of fidelity in pre-mRNA splicing. Curr. Opin. Cell Biol 2000, 12:340-345.
36. Rizzini C., Goedert M., Hodges J.R., Smith M.J., Jakes R., Hills R., Xuereb J.H., Crowther R.A., Spillantini M.G. Tau gene mutation K257T causes a tauopathy similar to Pick's disease. J. Neuropathol. Exp. Neurol 2000, 59:990-1001.
37. Rosso S.M., van Swieten J.C. New developments in frontotemporal dementia and parkinsonism linked to chromosome 17. Curr Opin Neurol 2002, 15:423-428.
38. Spillantini M.G., Goedert M. Tau protein pathology in neurodegenerative diseases. Trends Neurosci 1998, 21:428-433.
39. Stanford P.M., Shepherd C.E., Halliday G.M., Brooks W.S., Schofield P.W., Brodaty H., Martins R.N., Kwok J.B., Schofield P.R. Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia. Brain 2003, 126:814-826.
40. Clinical and neuropathological criteria for frontotemporal dementia. J. Neurol. Neurosurg. Psychiatry 1994, 57:416-418. The Lund and Manchester Groups.
41. Valente E.M., Salvi S., Ialongo T., Marongiu R., Elia A.E., Caputo V., Romito L., Albanese A., Dallapiccola B., Bentivoglio A.R. PINK1 mutations are associated with sporadic early-onset Parkinsonism. Ann. Neurol 2004, 56:336-341.
42. van Swieten J.C., Bronner I.F., Azmani A., Severijnen L.A., Kamphorst W., Ravid R., Rizzu P., Willemsen R., Heutink P. The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo. J. Neuropathol. Exp. Neurol 2007, 66:17-25.
43. Varani L., Hasegawa M., Spillantini M.G., Smith M.J., Murrell J.R., Ghetti B., Klug A., Goedert M., Varani G. Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl. Acad. Sci. U. S. A 1999, 96:8229-8234.
44. Wang Y., Wang J., Gao L., Lafyatis R., Stamm S., Andreadis A. Tau exons 2 and 10, which are misregulated in neurodegenerative diseases, are partly regulated by silencers which bind a SRp30cSRp55 complex that either recruits or antagonizes htra2beta1. J. Biol. Chem 2005, 280:14230-14239.
45. Yu Q., Guo J., Zhou J. A minimal length between tau exon 10 and 11 is required for correct splicing of exon 10. J. Neurochem 2004, 90:164-172.