Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

Neurology

Volumn 71, Issue 9, 2008, Pages 656-664

  Brouwers, N ^a,c,f   Sleegers, K ^a,c,f   Engelborghs, S ^d,f,h   Maurer Stroh, S ^b,g   Gijselinck, I ^a,c,f   Van Der Zee, J ^a,c,f   Pickut, B A ^h   Van Den Broeck, M ^a,c,f   Mattheijssens, M ^a,c,f   Peeters, K ^a,c,f   Schymkowitz, J ^b,g   Rousseau, F ^b,g   Martin, J J ^e,f   Cruts, M ^a,c,f   De Deyn, P P ^d,f,h   Van Broeckhoven, C ^a,c,f  

^a Neurodegenerative Brain Diseases Group   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c Laboratory of Neurogenetics   (Belgium)

^d Laboratory of Neurochemistry and Behaviour   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g FREE UNIVERSITY OF BRUSSELS   (Belgium)

^h MIDDELHEIM HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

PROGRANULIN; GRN PROTEIN, HUMAN; SIGNAL PEPTIDE;

AGED; ALZHEIMER DISEASE; ARTICLE; BELGIUM; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGRANULIN GENE; PROMOTER REGION; PROTEIN DEGRADATION; PROTEIN FOLDING; RISK FACTOR; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; AMINO ACID SEQUENCE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MIDDLE AGED;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HAPLOTYPES; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PROTEIN FOLDING; VARIATION (GENETICS);

EID: 52449110477     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000319688.89790.7a     Document Type: Article

References (30)

1. Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006;442: 916-919.
2. Cruts M, Gijselinck I, van der Zee J, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006;442: 920-924.
3. Cruts M, Van Broeckhoven C. Loss of progranulin function in frontotemporal lobar degeneration. Trends Genet Epub 2008 Mar 11.
4. Zhu J, Nathan C, Jin W, et al. Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair. Cell 2002;111:867-878.
5. He Z, Ong CH, Halper J, Bateman A. Progranulin is a mediator of the wound response. Nat Med 2003;9:225-229.
6. He Z, Bateman A. Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. J Mol Med 2003;81:600-612.
7. Lu R, Serrero G. Inhibition of PC cell-derived growth factor (PCDGF, epithelin/granulin precursor) expression by antisense PCDGF cDNA transfection inhibits tumorigenicity of the human breast carcinoma cell line MDA-MB-468. Proc Natl Acad Sci USA 2000;97:3993-3998.
8. Zhou J, Gao G, Crabb JW, Serrero G. Purification of an autocrine growth factor homologous with mouse epithelin precursor from a highly tumorigenic cell line. J Biol Chem 1993;268:10863-10869.
9. van der Zee J, Le Ber I, Maurer-Stroh S, et al. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat 2007;28:416.
10. Shankaran SS, Capell A, Hruscha AT, et al. FTLD-U linked missense mutations in the progranulin gene reduce progranulin production and secretion. J Biol Chem 2007.
11. Malaspina A, Kaushik N, de Belleroche J. Differential expression of 14 genes in amyotrophic lateral sclerosis spinal cord detected using gridded cDNA arrays. J Neurochem 2001;77:132-145.
12. Baker CA, Manuelidis L. Unique inflammatory RNA profiles of microglia in Creutzfeldt-Jakob disease. Proc Natl Acad Sci USA 2003;100:675-679.
13. Brouwers N, Nuytemans K, van der ZJ, et al. Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. Arch Neurol 2007;64: 1436-1446.
14. Engelborghs S, Dermaut B, Goeman J, et al. Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects. J Neurol Neurosurg Psychiatry 2003;74:1148-1151.
15. Engelborghs S, Dermaut B, Marien P, et al. Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia. Neurobiol Aging 2006;27:285-292.
16. Folstein MF, Folstein SE, McHugh PR. "Mini-mental state": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198.
17. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984;34: 939-944.
18. Engelborghs S, Sleegers K, Cras P, et al. No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer's disease. Brain 2007;130: 2320-2326.
19. Gijselinck I, Van Broeckhoven C, Cruts M. Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update. Hum Mutat 2008 (in press).
20. Weckx S, Del Favero J, Rademakers R, et al. novoSNP, a novel computational tool for sequence variation discovery. Genome Res 2005;15:436-442.
21. Sleegers K, Brouwers N, Maurer-Stroh S, et al. Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology Epub 2008 Jan 9.
22. Terwilliger J, Ott J. Handbook of Human Genetic Linkage. Baltimore: Johns Hopkins Press, 1994.
23. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002;70:425-434.
24. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-874.
25. Thompson JD, Higgins DG, Gibson TJ, Clustal W. improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice 1. Nucleic Acids Res 1994;22:4673-4680.
26. Crooks GE, Hon G, Chandonia JM, Brenner SE. WebLogo: a sequence logo generator 1. Genome Res 2004;14: 1188-1190.
27. Schymkowitz J, Borg J, Stricher F, Nys R, Rousseau F, Serrano L. The FoldX web server: an online force field. Nucleic Acids Res 2005;33:W382-W388.
28. Reumers J, Maurer-Stroh S, Schymkowitz J, Rousseau F. SNPeffect v2.0: a new step in investigating the molecular phenotypic effects of human non-synonymous SNPs. Bioinformatics 2006;22:2183-2185.
29. Czaplewski C, Oldziej S, Liwo A, Scheraga HA. Prediction of the structures of proteins with the UNRES force field, including dynamic formation and breaking of disulfide bonds. Protein Eng Des Sel 2004;17:29-36.
30. Jeanmougin F, Thompson JD, Gouy M, Higgins DG, Gibson TJ. Multiple sequence alignment with Clustal X. Trends Biochem Sci 1998;23:403-405.