GRN Variant rs5848 reduces plasma and brain levels of granulin in Alzheimer's disease patients

Journal of Alzheimer's Disease

Volumn 33, Issue 1, 2013, Pages 23-27

  Kämäläinen, Anna ^a   Viswanathan, Jayashree ^a   Natunen, Teemu ^a   Helisalmi, Seppo ^a   Kauppinen, Tarja ^a   Pikkarainen, Maria ^a   Pursiheimo, Juha Pekka ^b   Alafuzoff, Irina ^c   Kivipelto, Miia ^a,d   Haapasalo, Annakaisa ^a   Soininen, Hilkka ^a,e   Herukka, Sanna Kaisa ^a,e   Hiltunen, Mikko ^a  

^a UNIVERSITY OF EASTERN FINLAND   (Finland)

^b UNIVERSITY OF TURKU   (Finland)

^c UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^d KAROLINSKA INSTITUTE   (Sweden)

^e KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

Alzheimer's disease; granulin; GRN; microRNA; plasma; rs5848; temporal cortex

Indexed keywords

BRAIN PROTEIN; GRANULIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; HUMAN; INFERIOR TEMPORAL CORTEX; MALE; NEUROPATHOLOGY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION;

EID: 84872442945     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2012-120946     Document Type: Article

References (15)

1. Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroh S, Gijselinck I, van der Zee J, Pickut BA, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C (2008) Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Neurology 71, 656-664.
2. Viswanathan J, Makinen P, Helisalmi S, Haapasalo A, Soininen H, Hiltunen M (2009) An association study between granulin gene polymorphisms and Alzheimer's disease in Finnish population. Am J Med Genet B Neuropsychiatr Genet 150B 747-750.
3. Lee MJ, Chen TF, Cheng TW, Chiu MJ (2011) rs5848 variant of progranulin gene is a risk of Alzheimer's disease in the Taiwanese population. Neurodegener Dis 8, 216-220.
4. 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 TDP43-positive frontotemporal dementia. Hum Mol Genet 17, 3631-3642.
5. Fenoglio C, Galimberti D, Cortini F, Kauwe JS, Cruchaga C, Venturelli E, Villa C, Serpente M, Scalabrini D, Mayo K, PiccioLM,Clerici F, Albani D, Mariani C, Forloni G, Bresolin N, Goate AM, Scarpini E (2009) Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. J Alzheimers Dis 18, 603-612.
6. Hsiung GY, Fok A, Feldman HH, Rademakers R, Mackenzie IR (2011) Rs5848 polymorphism and serum progranulin level. J Neurol Sci 300, 28-32.
7. Bateman A, Bennett HP (1998) Granulins: The structure and function of an emerging family of growth factors. J Endocrinol 158, 145-151. (Pubitemid 28342057)
8. Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442, 920-924. (Pubitemid 44285947)
9. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDAWork Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34, 939-944. (Pubitemid 14076461)
10. Viswanathan J, Haapasalo A, Bottcher C, Miettinen R, Kurkinen KM, Lu A, Thomas A, Maynard CJ, Romano D, Hyman BT, Berezovska O, Bertram L, Soininen H, Dantuma NP, Tanzi RE, HiltunenM(2011) Alzheimer's disease-associated ubiquilin-1 regulates presenilin-1 accumulation and aggresome formation. Traffic 12, 330-348.
11. Braak H, Braak E (1991) Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 82, 239-259.
12. Braak H, Alafuzoff I, Arzberger T, Kretzschmar H, Del Tredici K (2006) Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry. Acta Neuropathol 112, 389-404. (Pubitemid 44469160)
13. Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R,McGowan E,Mann D, Boeve B, Feldman H, HuttonM(2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442, 916-919. (Pubitemid 44285946)
14. Wang WX, Wilfred BR, Madathil SK, Tang G, Hu Y, Dimayuga J, Stromberg AJ, Huang Q, Saatman KE, Nelson PT (2010) miR-107 regulates granulin/progranulin with implications for traumatic brain injury and neurodegenerative disease. Am J Pathol 177, 334-345.
15. Suzuki M,Yoshida S, Nishihara M, TakahashiM(1998) Identification of a sex steroid-inducible gene in the neonatal rat hypothalamus. Neurosci Lett 242, 127-130. (Pubitemid 28275512)