Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease

Neuroscience Letters

Volumn 240, Issue 3, 1998, Pages 174-176

  Aldudo, Jesús ^a   Bullido, María J ^a   Arbizu, Txomin ^b   Oliva, Rafael ^b   Valdivieso, Fernando ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

Alzheimer's disease; Genes; Mutation; Presenilin 1

Indexed keywords

ARGININE; GUANINE; LEUCINE; PRESENILIN 1; THYMINE;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PRIORITY JOURNAL; SPAIN;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARGININE; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENETIC SCREENING; HUMANS; LEUCINE; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; PRESENILIN-1; RISK FACTORS;

EID: 0032536016     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(97)00950-6     Document Type: Article

References (22)

1. Aldudo J., Bullido M.J., Frank A., Valdivieso F. Presenilin-1 genotype (2/2) is associated with late-onset Alzheimer's disease in Spanish patients. Alzheimer Res. 3:1997;141-144.
2. Campion D., Flaman J.M., Brice A., Hannequin D., Dubois B., Martin C., Moreau V., Charbonier F., Didierjean O., Tardieu S., Penet C., Puel M., Pasquier F., Le Doze F., Bellis G., Calenda A., Heiolig R., Martinez M., Mallet J., Bellis M., Clerget-Darpoux F., Agid Y., Trebourg T. Mutations of the presenilin gene in families with early-onset Alzheimer's disease. Hum. Mol. Genet. 4:1995;2373-2377.
3. Cruts M., Hendriks L., Van Broeckhoven C. The presenilin genes: a new family involved in Alzheimer's disease pathology. Hum. Mol. Genet. 5:1996;1449-1455.
4. Cruts M., Backhovens H., Wang S.-Y., Van Gassen G., Theuns J., De Jonghe C., Wehnert A., De Voecht J., De Winter G., Cras P., Bruyland M., Datson N., Weissenbach J., den Dunnen J.T., Martin J.J., Hendriks L., Van Broeckhoven C. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum. Mol. Genet. 4:1995;2363-2371.
5. Doan, A., Thinakaran, G., Borchelt, D.R., Slunt, H.H., Ratovitsky, T., Podlisny, M., Selkoe, D.J., Seeger, M., Gandy, S.E., Price, D.L. and Sisodia, S.S., Protein topology of presenilin 1, Neuron, (1996) 1023-1030.
6. Ezquerra M., Blesa R., Tolosa E., López-Pousa S., Aguilar M., Peña J., Van Broeckhoven C., Ballesta F., Oliva R. The genotype 2/2 of the presenilin-1 polymorphism is decreased in Spanish early-onset Alzheimer's disease. Neurosci. Lett. 169:1997;201-204.
7. Goate A., Chartier-Harlin M.C., Mullan M., Brown J., Crawford F., Fidani L., Giufra L., Haynes A., Irving N., James L., Mant R., Newton P., Rooke K., Roques P., Talbot C., Pericak-Vance M., Roses A., Williamson R., Rossor M., Owen M., Hardy J. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 349:1991;704-709.
8. Haass C. Presenilins: genes for life and death. Neuron. 18:1997;687-690.
9. Hardy J. Amyloid, the presenilins and Alzheimer's disease. Trends Neurosci. 20:1997;154-159.
10. Hutton M., Busfield F., Wragg M., Crook R., Perez-Tur J., Clark R.F., Prihar G., Talbot C., Phillips H., Wright K., Baker M., Lendon C., Duff K., Martínez A., Houlden H., Nichols A., Karran E., Roberts G., Roques P., Rossor M., Venter J.C., Adams M.D., Cline R.T., Phillips C.A., Fuldner R.A., Hardy J., Goate A. Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. NeuroReport. 7:1996;801-805.
11. Kehoe P., Williams J., Holmans P., Liddell M., Lovestone S., Holmes C., Powell J., Neal J., Wilcock G., Owen M.J. Association between a PS-1 intronic polymorphism and late onset. Alzheimer's disease, NeuroReport. 7:1996;2155-2158.
12. Levy-Lahad E., Wasco W., Poorkaj P., Romano D.M., Oshima J., Pettingell W.H., Yu C., Jondro P.D., Schmidt S.D., Wang K., Crowley A.C., Fu Y., Guenette S.Y., Galas D., Wijsman E.M., Bird T.D., Schelenberg G.D., Tanzi R.E. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 269:1995;973-977.
13. Li, X. and Greenwald, I., Membrane topology of the C. elegans SEL-12 presenilin, Neuron, (1996) 1015-1021.
14. McKhann G., Drachman D., Folstein M., Katzman R., Price D., 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.
15. Pérez-Tur, J., De Vrieze, F.W., Lambert, J.C., Chartier-Harlin, M.-C. and the Alzheimer's Study Group, Presenilin-1 polymorphism and Alzheimer's disease, Lancet, 347 (1996) 1560-1561.
16. Rogaev E.I., Sherrington R., Wu C., Levesque G., Liang Y., Rogaeva E.A., Ikeda M., Holman K., Lin C., Lukiw W.J., de Jong P.J., Fraser P.E., Rommens J.M., St George-Hyslop P. Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics. 40:1997;415-424.
17. Rohan de Silva, H.A. and Patel, A.J., Presenilins and early-onset familial Alzheimer's disease, NeuroReport, 8 (1997) i-xii.
18. Sherrington R., Rogaev E., Liang Y., Rogaeva E.A., Levesque G., Ikeda M., Chi H., Lin C., Holman K., Tsuda T., Mar L., Foncin J.F., Bruni A.C., Montesi M.P., Sorbi S., Rainero Y., Pinessi L., Nee L., Chumakov Y., Pollen D., Brookes A., Sanseau P., Polinsky J., Wasco W., Da Silva H.A.R., Haines J.L., Pericak-Vance M.A., Tanzi R.E., Roses A.D., Fraser P.E., Rommens J.M., St George-Hyslop P.H. Cloning a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 375:1995;754-760.
19. Saunders A., Strittmatter W., Schmechel D., St. George-Hyslop P.H., Pericak-Vance M.A., Joo S.H., Rosi B.L., Gusella J.F., Craper-MacLachlan D.R., Alberts M.J., Hulette C., Crain B., Goldgaber D., Roses A. Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease. Neurology. 43:1993;1467-1472.
20. Strittmatter W.J., Schmechel D., Pericak-Vance M., Enghild J., Salvensen G.S., Roses A.D. ApoE-high avidity binding to β-amyloid and increased frequency of type 4 allele in late onset familial Alzheimer's disease. Proc. Natl. Acad. Sci. USA. 90:1993;1977-1981.
21. Van Broeckhoven C. Presenilins and Alzheimer's disease. Nature Genet. 11:1995;230-232.
22. Wragg, M., Hutton, M., Talbot, C. and the Alzheimer's disease collaborative Group, Genetic association between intron polymorphism in presenilin-1 gene and late-onset Alzheimer's disease, Lancet, 347 (1996) 509-512.