Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population

Neurobiology of Aging

Volumn 28, Issue 11, 2007, Pages 1682-1688

  Albani, Diego ^a   Roiter, Ignazio ^g   Artuso, Vladimiro ^h   Batelli, Sara ^a   Prato, Francesca ^a   Pesaresi, Marzia ^a   Galimberti, Daniela ^b   Scarpini, Elio ^b   Bruni, Amalia ^c   Franceschi, Massimo ^d   Piras, Maria Rita ^e   Confaloni, Annamaria ^f   Forloni, Gianluigi ^a  

^a MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c Regional Center for NeuroGenetics   (Italy)

^d IRCCS MULTIMEDICA   (Italy)

^e UNIVERSITY OF SASSARI   (Italy)

^f ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^g Treviso Hospital   (Italy)

^h Oncologia Medica   (Italy)

Author keywords

Amyloid beta protein; E318G mutation; Familial Alzheimer's Disease; Genetics; Neurodegenerative disease; Presenilin 1; Skin biopsy

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; PRESENILIN 1;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; AUSTRALIA; CONTROLLED STUDY; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; FISHER EXACT TEST; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRESENILIN 1 GENE; PRIORITY JOURNAL; RANK SUM TEST; RISK FACTOR; SKIN BIOPSY; STATISTICAL SIGNIFICANCE;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; FEMALE; GLUTAMIC ACID; GLYCINE; HETEROZYGOTE DETECTION; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PRESENILIN-1;

EID: 34548587284     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2006.07.003     Document Type: Article

References (33)

1. Aldudo J., Bullido M.J., Frank A., and Valdivieso F. Missense mutation E318G of the presenilin-1 gene appears to be a non-pathogenic polymorphism. Ann Neurol 44 (1998) 985-986
2. Arango D., Cruts M., Torres O., Backhovens H., Serrano M.L., Villareal E., et al. Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. Am J Med Genet 103 (2001) 138-143
3. Bentahir M., Nyabi O., Verhamme J., Tolia A., Horre K., Wiltfang J., et al. Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms. J Neurochem 96 (2006) 732-742
4. Berezovska O., Lleo A., Herl L.D., Frosch M.P., Stern E.A., Bacskai B.J., et al. Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein. J Neurosci 25 (2005) 3009-3017
5. Brunkan A.L., and Goate A.M. Presenilin function and gamma-secretase activity. J Neurochem 93 (2005) 769-792
6. Citron M., Westaway D., Xia W., Carlson G., Diehl T., Levesque G., et al. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nat Med 3 (1997) 67-72
7. Cockrell J.R., and Folstein M.F. Mini mental state examination (MMSE). Psychopharmacology 24 (1988) 689-692
8. Colacicco A.M., Panza F., Basile A.M., Solfrizzi V., Capurso C., D'Introno A., et al. F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease. Eur Neurol 47 (2002) 209-213
9. Corder E.H., Saunders A.M., Strittmatter W.J., Schmechel D.E., Gaskell P.C., and Small G.W. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261 (1993) 921-923
10. Crum R.M., Anthony J.C., Bassett S.S., and Folstein M.F. Population-based norms for the mini-mental state examination by age and educational level. JAMA 18 (1993) 2386-2391
11. Dermaut B., Cruts M., Backhovens H., Lubke U., Van Everbroeck B., and Sciot R. Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. J Neurol 247 (2000) 364-368
12. Dermaut B., Cruts M., Slooter A.J., Van Gestel S., De Jonghe C., Vanderstichele H., et al. The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease. Am J Hum Genet 64 (1999) 290-292
13. Forloni G., Terreni L., Bertani I., Fogliarino S., Invernizzi R., Assini A., et al. Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms. Neurobiol Aging 23 (2002) 957-976
14. Forsell C., Froelich S., Axelman K., Vestling M., Cowburn R.F., Lilius L., et al. A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease. Neurosci Lett 234 (1997) 3-6
15. Gelb D.J., Oliver E., and Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 56 (1999) 33-39
16. Goate A., Chartier-Harlin M.C., Mullan M., Brown J., Crawford F., Fidani L., et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349 (1991) 704-706
17. Goldman J.S., Johnson J.K., McElligott K., Suchowersky O., Miller B.L., and Van Deerlin V.M. Presenilin 1 Glu318Gly polymorphism: interpret with caution. Arch Neurol 62 (2005) 1624-1627
18. Helisalmi S., Hiltunen M., Mannermaa A., Koivisto A.M., Lehtovirta M., Alafuzoff I., et al. Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?. Neurosci Lett 278 (2000) 65-68
19. Jankowsky J.L., Fadale D.J., Anderson J., Xu G.M., Gonzales V., and Jenkins N.A. Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase. Hum Mol Genet 13 (2004) 159-170
20. Knappenberger K.S., Tian G., Ye X., Sobotka-Briner C., Ghanekar S.V., Greenberg B.D., et al. Mechanism of gamma-secretase cleavage activation: is gamma-secretase regulated through autoinhibition involving the presenilin-1 exon 9 loop?. Biochemistry 43 (2004) 6208-6218
21. Kowalska A., Wender M., Florczak J., Pruchnik-Wolinska D., Modestowicz R., Szczech J., et al. Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznan region. J Appl Genet 44 (2003) 231-234
22. Laws S.M., Clarnette R.M., Taddei K., Martins G., Paton A., Almeida O.P., et al. Association between the presenilin-1 mutation Glu318Gly and complaints of memory impairment. Neurobiol Aging 23 (2002) 55-58
23. Lleo A., Castellvi M., Blesa R., and Oliva R. Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation. Neurosci Lett 318 (2002) 166-168
24. Mattila K.M., Forsell C., Pirttila T., Rinne J.O., Lehtimaki T., Roytta M., et al. The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. Ann Neurol 44 (1998) 965-967
25. Mayeux R., Honig L.S., Tang M.X., Manly J., Stern Y., Schupf N., et al. Plasma A[beta]40 and A[beta]42 and Alzheimer's disease: relation to age, mortality, and risk. Neurology 611 (2003) 1185-1190
26. McKhann G., Drachman D., Folstein M., Katzman R., Price D., and Stadlan E.M. 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 34 (1984) 939-944
27. Murayama O., Tomita T., Nihonmatsu N., Murayama M., Sun X., Honda T., et al. Enhancement of amyloid beta 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease. Neurosci Lett 265 (1999) 61-63
28. Nishimura M., Yu G., Levesque G., Zhang D.M., Ruel L., Chen F., et al. Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex. Nat Med 5 (1999) 164-169
29. Poirier J. Apolipoprotein E, cholesterol transport and synthesis in sporadic Alzheimer's disease. Neurobiol Aging 26 (2005) 355-361
30. St George-Hyslop P.H., and Petit A. Molecular biology and genetics of Alzheimer's disease. CR Biol 328 (2005) 119-130
31. Taddei K., Fisher C., Laws S.M., Martins G., Paton A., Clarnette R.M., et al. Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population. Mol Psychiatry 7 (2002) 776-781
32. Walker E.S., Martinez M., Brunkan A.L., and Goate A. Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. J Neurochem 92 (2005) 294-301
33. Zekanowski C., Peplonska B., Styczynska M., Religa D., Pfeffer A., Czyzewski K., et al. The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort. Neurosci Lett 357 (2004) 167-170