The role of MAPT haplotype H2 and isoform 1N/4R in parkinsonism of older adults

PLoS ONE

Volumn 11, Issue 7, 2016, Pages

  Valenca, Guilherme T ^a,b,c,d,f   Srivastava, Gyan P ^d,f   Oliveira Filho, Jamary ^c   White, Charles C ^d,e,f   Yu, Lei ^g   Schneider, Julie A ^g   Buchman, Aron S ^g   Shulman, Joshua M ^h,i   Bennett, David A ^g   De Jager, Philip L ^d,e,f  

^a General Hospital Roberto Santos   (Brazil)

^b Federal University of Reconcavo of Bahia   (Brazil)

^c FEDERAL UNIVERSITY OF BAHIA   (Brazil)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g RUSH UNIVERSITY MEDICAL CENTER   (United States)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN; ISOPROTEIN; MAPT PROTEIN, HUMAN;

AGE; AGED; ALTERNATIVE RNA SPLICING; ARTICLE; BRADYKINESIA; COHORT ANALYSIS; CONTROLLED STUDY; DORSOLATERAL PREFRONTAL CORTEX; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; LONGITUDINAL STUDY; MALE; MAPT GENE; PARKINSONISM; SEX; VERY ELDERLY; BRAIN; DIAGNOSIS; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MORTALITY; PARKINSON DISEASE; PARKINSONIAN DISORDERS; PATHOLOGY; PHENOTYPE; QUANTITATIVE TRAIT;

AGE FACTORS; AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; BRAIN; DIAGNOSIS; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; PARKINSON DISEASE; PARKINSONIAN DISORDERS; PHENOTYPE; PROTEIN ISOFORMS; QUANTITATIVE TRAIT, HERITABLE; TAU PROTEINS;

EID: 84982698661     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0157452     Document Type: Article

References (37)

1. Louis ED, Bennett DA. Mild Parkinsonian signs: An overview of an emerging concept. Mov Disord. 2007; 22(12):1681-8. PMID: 17534951
2. Hindle JV. Ageing, neurodegeneration and Parkinson's disease. Age Ageing. 2010; 39(2):156-61. doi: 10.1093/ageing/afp223 PMID: 20051606
3. Buchman AS, Shulman JM, Nag S, Leurgans SE, Arnold SE, Morris MC, et al. Nigral pathology and parkinsonian signs in elders without Parkinson disease. Ann Neurol. 2012; 71(2):258-66. doi: 10.1002/ana.22588 PMID: 22367997
4. Buchman AS, Leurgans SE, Nag S, Bennett DA, Schneider JA. Cerebrovascular disease pathology and parkinsonian signs in old age. Stroke. 2011; 42(11):3183-9. doi: 10.1161/STROKEAHA.111.623462 PMID: 21885844
5. Shulman JM, Yu L, Buchman AS, Evans DA, Schneider JA, Bennett DA, et al. Association of Parkinson disease risk loci with mild parkinsonian signs in older persons. JAMA Neurol. 2014; 71(4):429-35. doi: 10.1001/jamaneurol.2013.6222 PMID: 24514572
6. Majounie E, Cross W, Newsway V, Dillman A, Vandrovcova J, Morris CM, et al. Variation in tau isoform expression in different brain regions and disease states. Neurobiol Aging. 2013; 34(7):1922 e7-e12. doi: 10.1016/j.neurobiolaging.2013.01.017 PMID: 23428180
7. Niblock M, Gallo JM. Tau alternative splicing in familial and sporadic tauopathies. Biochem Soc Trans. 2012; 40(4):677-80. doi: 10.1042/BST20120091 PMID: 22817715
8. Hoglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011; 43(7):699-705. doi: 10.1038/ng.859 PMID: 21685912
9. Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, et al. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet. 2005; 14(21):3281-92. PMID: 16195395
10. Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, et al. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology. 2001; 56 (12):1702-6. PMID: 11425937
11. Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, et al. Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet. 2005; 42(11):837-46. Epub 2005/03/29. doi: 10.1136/jmg.2005.031377 PMID: 15792962
12. Vilarino-Guell C, Soto-Ortolaza AI, Rajput A, Mash DC, Papapetropoulos S, Pahwa R, et al. MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy. Neurology. 2011; 76(7):670-2. doi: 10.1212/WNL.0b013e31820c30c1 PMID: 21321341
13. Zabetian CP, Hutter CM, Factor SA, Nutt JG, Higgins DS, Griffith A, et al. Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease. Ann Neurol. 2007; 62(2):137-44. PMID: 17514749
14. Skipper L, Wilkes K, Toft M, Baker M, Lincoln S, Hulihan M, et al. Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am J Hum Genet. 2004; 75(4):669-77. PMID: 15297935
15. Allen M, Kachadoorian M, Quicksall Z, Zou F, Chai HS, Younkin C, et al. Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels. Alzheimers Res Ther. 2014; 6(4):39. doi: 10.1186/alzrt268 PMID: 25324900
16. Ghidoni R, Signorini S, Barbiero L, Sina E, Cominelli P, Villa A, et al. The H2 MAPT haplotype is associated with familial frontotemporal dementia. Neurobiol Dis. 2006; 22(2):357-62. PMID: 16410051
17. Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, et al. MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet. 2012; 21(18):4094-103. doi: 10.1093/hmg/dds238 PMID: 22723018
18. Bennett DA, Schneider JA, Arvanitakis Z, Wilson RS. Overview and findings from the religious orders study. Curr Alzheimer Res. 2012; 9(6):628-45. PMID: 22471860
19. Bennett DA, Schneider JA, Buchman AS, Barnes LL, Boyle PA, Wilson RS. Overview and findings from the rush Memory and Aging Project. Curr Alzheimer Res. 2012; 9(6):646-63. PMID: 22471867
20. Corneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, et al. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet. 2010; 19(16):3295-301. doi: 10.1093/hmg/ddq221 PMID: 20534741
21. Wider C, Vilarino-Guell C, Jasinska-Myga B, Heckman MG, Soto-Ortolaza AI, Cobb SA, et al. Association of the MAPT locus with Parkinson's disease. Eur J Neurol. 2010; 17(3):483-6. doi: 10.1111/j.1468-1331.2009.02847.x PMID: 19912324
22. Schroeder A, Mueller O, Stocker S, Salowsky R, Leiber M, Gassmann M, et al. The RIN: an RNA integrity number for assigning integrity values to RNA measurements. BMC Mol Biol. 2006; 7:3. PMID: 16448564
23. Trapnell C, Pachter L, Salzberg SL. TopHat: discovering splice junctions with RNA-Seq. Bioinformatics. 2009; 25(9):1105-11. doi: 10.1093/bioinformatics/btp120 PMID: 19289445
24. Braak H, Del Tredici K, Rub U, de Vos RA, Jansen Steur EN, Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging. 2003; 24(2):197-211. PMID: 12498954
25. Schneider JA, Li JL, Li Y, Wilson RS, Kordower JH, Bennett DA. Substantia nigra tangles are related to gait impairment in older persons. Ann Neurol. 2006; 59(1):166-73. PMID: 16374822
26. Bennett DA, Wilson RS, Schneider JA, Evans DA, Aggarwal NT, Arnold SE, et al. Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease. Neurology. 2003; 60 (2):246-52. PMID: 12552039
27. Caffrey TM, Wade-Martins R. The role of MAPT sequence variation in mechanisms of disease susceptibility. Biochem Soc Trans. 2012; 40(4):687-92. doi: 10.1042/BST20120063 PMID: 22817717
28. Louis ED, Schupf N, Manly J, Marder K, Tang MX, Mayeux R. Association between mild parkinsonian signs and mild cognitive impairment in a community. Neurology. 2005; 64(7):1157-61. PMID: 15824340
29. Uemura Y, Wada-Isoe K, Nakashita S, Nakashima K. Depression and cognitive impairment in patients with mild parkinsonian signs. Acta Neurol Scand. 2013; 128(3):153-9. doi: 10.1111/ane.12089 PMID: 23397887
30. Iwata A, Nagata K, Hatsuta H, Takuma H, Bundo M, Iwamoto K, et al. Altered CpG methylation in sporadic Alzheimer's disease is associated with APP and MAPT dysregulation. Hum Mol Genet. 2014; 23 (3):648-56. doi: 10.1093/hmg/ddt451 PMID: 24101602
31. Coupland KG, Mellick GD, Silburn PA, Mather K, Armstrong NJ, Sachdev PS, et al. DNA methylation of the MAPT gene in Parkinson's disease cohorts and modulation by vitamin E in vitro. Mov Disord. 2014; 29(13):1606-14. doi: 10.1002/mds.25784 PMID: 24375821
32. Hayesmoore JB, Bray NJ, Cross WC, Owen MJ, O'Donovan MC, Morris HR. The effect of age and the H1c MAPT haplotype on MAPT expression in human brain. Neurobiol Aging. 2009; 30(10):1652-6. doi: 10.1016/j.neurobiolaging.2007.12.017 PMID: 18276036
33. Caffrey TM, Joachim C, Wade-Martins R. Haplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus. Neurobiol Aging. 2008; 29(12):1923-9. PMID: 17602795
34. Karch CM, Jeng AT, Goate AM. Extracellular Tau levels are influenced by variability in Tau that is associated with tauopathies. J Biol Chem. 2012; 287(51):42751-62. Epub 2012/10/30. doi: 10.1074/jbc.M112.380642 PMID: 23105105; PubMed Central PMCID: PMCPMC3522274.
35. Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, et al. The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis. 2007; 25(3):561-70. PMID: 17174556
36. Caffrey TM, Joachim C, Paracchini S, Esiri MM, Wade-Martins R. Haplotype-specific expression of exon 10 at the human MAPT locus. Hum Mol Genet. 2006; 15(24):3529-37. PMID: 17085483
37. Chambers CB, Lee JM, Troncoso JC, Reich S, Muma NA. Overexpression of four-repeat tau mRNA isoforms in progressive supranuclear palsy but not in Alzheimer's disease. Ann Neurol. 1999; 46 (3):325-32. PMID: 10482263