Progranulin gene (GRN) promoter methylation is increased in patients with sporadic frontotemporal lobar degeneration

Neurological Sciences

Volumn 34, Issue 6, 2013, Pages 899-903

  Galimberti, Daniela ^b   D'Addario, Claudio ^a   Dell'Osso, Bernardo ^b   Fenoglio, Chiara ^b   Marcone, Alessandra ^c   Cerami, Chiara ^c   Cappa, Stefano F ^c   Palazzo, M Carlotta ^b   Arosio, Beatrice ^b   Mari, Daniela ^b   MacCarrone, Mauro ^a   Bresolin, Nereo ^b   Altamura, A Carlo ^b   Scarpini, Elio ^b  

^a UNIVERSITY OF TERAMO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

Expression; Frontotemporal lobar degeneration (FTLD); Methylation; Peripheral mononuclear cells (PBMC); Progranulin (GRN)

Indexed keywords

MESSENGER RNA; PROGRANULIN;

AGE; AGED; ARTICLE; CELL ISOLATION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GRN GENE; HUMAN; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; PROMOTER REGION; TREND STUDY;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; FRONTOTEMPORAL LOBAR DEGENERATION; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; METHYLATION; MIDDLE AGED; MUTATION; PROMOTER REGIONS, GENETIC; RNA, MESSENGER;

EID: 84879114551     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-012-1151-5     Document Type: Article

References (25)

1. Boeve B, Hutton M (2008) Refining frontotemporal dementia with Parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol 65(4):460-464
2. Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli RJ, Wszolek ZK, Uitti RJ, Feldman H, Hutton ML, Mackenzie IR, Graff-Radford NR, Dickson DW (2008) Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP-43-positive frontotemporal dementia. Human Mol Genet 17(23):3631-3642
3. Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, Collinge J, De Deyn PP, Mann DM, Van Broeckhoven C, Pickering-Brown SM (2011) No association of PGRN 3′UTR rs5848 in frontotemporal lobar degeneration. Neurobiol Aging 32(4):754-755
4. Galimberti D, Fenoglio C, Cortini F, Serpente M, Venturelli E, Villa C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Scalabrini D, Restelli I, Martinelli Boneschi F, Cappa S, Binetti G, Mariani C, Rainero I, Giordana MT, Bresolin N, Scarpini E (2010) GRN variability contributes to sporadic frontotemporal lobar degeneration. J Alzheimers Dis 19(1):171-177
5. Bird AP (1996) CpG-rich islands and the function of DNA methylation. Nature 321:209-213
6. Weber M, Hellmann I, Stadler MB, Ramos L, Pääbo S, Rebhan M, Schübeler D (2007) Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome. Nat Genet 39(4):457-466
7. Herman JG, Baylin SB (2003) Gene silencing in cancer in association with promoter hypermethylation. N Engl J Med 349:2042-2054
8. Siegmund KD, Connor CM, Campan M, Long TI, Weisenberger DJ, Biniszkiewicz D, Jaenisch R, Laird PW, Akbarian S (2007) DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. PLoS One 2(9):e895
9. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF (2008) Frontotemporal lobar degeneration. A consensus on clinical diagnostic criteria. Neurology 51:1546-1554
10. McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ, Work Group on Frontotemporal Dementia and Pick's Disease (2001) Clinical and pathological diagnosis of frontotemporal dementia. Arch Neurol 58:1803-1809
11. Villa C, Ghezzi L, Pietroboni AM, Fenoglio C, Cortini F, Serpente M, Cantoni C, Ridolfi E, Marcone A, Benussi L, Ghidoni R, Jacini F, Arighi A, Fumagalli GG, Mandelli A, Binetti G, Cappa S, Bresolin N, Scarpini E, Galimberti D (2011) A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia. J Alzheimers Dis 26:19-26
12. Carecchio M, Fenoglio C, Cortini F, Comi C, Benussi L, Ghidoni R, Borroni B, De Riz M, Serpente M, Cantoni C, Franceschi M, Albertini V, Monaco F, Rainero I, Binetti G, Padovani A, Bresolin N, Scarpini E, Galimberti D (2011) Cerebrospinal fluid biomarkers in progranulin mutations carriers. J Alzheimers Dis 27(4):781-790
13. Pietroboni AM, Fumagalli GG, Ghezzi L, Fenoglio C, Cortini F, Serpente M, Cantoni C, Rotondo E, Corti P, Carecchio M, Bassi M, Bresolin N, Galbiati D, Galimberti D, Scarpini E (2011) Phenotypic Heterogeneity of the GRN Asp22fs Mutation in a large Italian kindred. J Alzheimers Dis 24(2):253-259
14. Venturelli E, Villa C, Fenoglio C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Cortini F, Serpente M, Cantoni C, Fumagalli G, Ridolfi E, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D (2011) BAG1 is a protective factor for sporadic frontotemporal lobar degeneration but not for Alzheimer's disease. J Alzheimers Dis 23(4):701-707
15. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72:245-256
16. Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72:257-268
17. Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25:402-408
18. Lu L, Katsaros D, de la Longrais IA, Sochirca O, Yu H (2007) Hypermethylation of let-7a-3 in epithelial ovarian cancer is associated with low insulin-like growth factor-II expression and favorable prognosis. Cancer Res 67(21):10117-10122
19. Gómez-Hernández A, Sánchez-Galán E, Martín-Ventura JL, Vidal C, Blanco-Colio LM, Ortego M, Vega M, Serrano J, Ortega L, Hernández G, Tunón J, Egido J (2006) Atorvastatin reduces the expression of prostaglandin e2 receptors in human carotid atherosclerotic plaques and monocytic cells: potential implications for plaque stabilization. J Cardiovasc Pharmacol 47:60-69
20. Serpente M, Fenoglio C, Villa C, Cortini F, Cantoni C, Ridolfi E, Clerici F, Marcone A, Benussi L, Ghidoni R, Martinelli Boneschi F, Gallone S, Cappa S, Binetti G, Franceschi M, Rainero I, Giordana MT, Mariani C, Bresolin N, Scarpini E, Galimberti D (2011) Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis. J Alzheimers Dis 26(4):787-793
21. Fenoglio C, Galimberti D, Cortini F, Kauwe JS, Cruchaga C, Venturelli E, Villa C, Serpente M, Scalabrini D, Mayo K, Piccio LM, Clerici F, Albani D, Mariani C, Forloni G, Bresolin N, Goate AM, Scarpini E (2009) s5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. J Alzheimers Dis 18:603-612
22. Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G (2008) Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 71(16):1235-1239
23. Carecchio M, Fenoglio C, De Riz M, Guidi I, Comi C, Cortini F, Venturelli E, Restelli I, Cantoni C, Bresolin N, Monaco F, Scarpini E, Galimberti D (2009) Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic mild cognitive impairment converted to Alzheimer's disease. J Neurol Sci 287(1-2):291-293
24. Fraga MF, Esteller M (2007) Epigenetics and aging: the targets and the marks. Trends Genet 23:413-418
25. Zhang FF, Cardarelli R, Carroll J, Fulda KG, Kaur M, Gonzalez K, Vishwanatha JK, Santella RM, Morabia A (2011) Significant differences in global genomic DNA methylation by gender and race/ethnicity in peripheral blood. Epigenetics 6(5):623-629