Cell-type-specific enhancement of amyloid-β deposition in a novel presenilin-1 mutation (P117L)

Journal of Neuropathology and Experimental Neurology

Volumn 57, Issue 9, 1998, Pages 831-838

  Wegiel, Jerzy ^a   Wisniewski, Henryk M ^a   Kuchna, Izabela ^b   Tarnawski, Michal ^a   Badmajew, Eulalia ^a   Popovitch, Eirene ^a   Kulczycki, Jerzy ^c   Dowjat, Wieslaw K ^a   Wisniewski, Thomas ^d  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^c INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^d NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Alzheimer disease; Amyloid ; Mutation; Myocyte; Neuron; Presenilin

Indexed keywords

AMYLOID BETA PROTEIN; PRESENILIN 1;

ALZHEIMER DISEASE; AMYLOIDOSIS; ARTICLE; CELL SPECIFICITY; CHROMOSOME 21; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN TISSUE; NEOCORTEX; NERVE DEGENERATION; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SMOOTH MUSCLE FIBER;

EID: 0031690109     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005072-199809000-00004     Document Type: Article

References (51)

1. Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991;349:704-6
2. Chartier-Harlin M-C, Crawford F, Houlden H, et al. Early-onset Alzheimer disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature 1991;353:844-46
3. Naruse S, Igarashi S, Aoki K, et al. Missense mutation Val-Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer disease. Lancet 1991;337:978-79
4. Murrell J, Farlow M, Ghetti B, Benson MD. A mutation in the amyloid precursor protein associated with hereditary Alzheimer disease, Science 1991;254:97-99
5. Mullan M, Crawford F, Axelman K, et al. A pathogenic mutation for probable Alzheimer disease in the APP gene at the N-terminus of β-amyloid. Nature Genet 1992;1:345-47
6. Hendriks L, van Duijn CM, Cras P, et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene. Nat Genet 1992;:1:218-21
7. Levy-Lahad E, Wijsman EM, Nemens E, et al. A familial Alzheimer disease locus on chromosome I. Science 1995;:269:970-73
8. Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer disease locus. Science 1995;269: 973-77
9. Rogaev EI, Sherrington R, Rogaeva EA, et al. Familial Alzheimer disease in kindreds with missense mutation in a gene on chromosome 1 related to the Alzheimer disease type 3 gene. Nature 1995;376:775-78
10. St George-Hyslop, P, Haines J, Rogaev E, et al. Genetic evidence for a novel familial Alzheimer disease locus on chromosome 14. Nature 1992;2:330-34
11. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer disease. Nature 1995;375:754-60
12. Alzheimer's Disease Collaborative Group. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet 1995;11:219-22
13. Campion D, Flaman JM, Brice A, et al. Mutations of the presenilin 1 gene in families with early-onset Alzheimer disease. Hum Mol Genet 1995;4:2373-77
14. Chapman J, Asherov A, Wang N, Treves TA, Korczyn AD, Goldfarb LG. Familial Alzheimer disease associated with S182 codon 286 mutation. Lancet 1995;346:1040
15. Cruts M, Backhovens H, Wang SY, et al. Molecular genetic analysis of familial early-onset Alzheimer disease linked to chromosome 14Q24.3. Hum Mol Genet 1995;4:2363-71
16. Boteva K, Vitek M, Mitsuda H, et al. Mutation analysis of presenilin 1 gene in Alzheimer disease. Lancet 1996;347:130-31
17. Perez-Tur J, Froelich S, Prihar G, et al. A mutation in Alzheimer disease destroying a splice acceptor site in the presenilin-1 gene. NeuroReport 1995;7:297-301
18. Wisniewski T, Dowjat WK, Buxbaum JD, et al. A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer disease and leads to death as early as the age of 28 years. NeuroReport 1998;9:217-21
19. Lemere CA, Lopera F, Koski KS, et al. The E280A presenilin-1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology. Nature Med 1996;2:1146?50
20. Gomez-Isla T, Wasco W, Pettingell WP, et al. A novel presenilin-1 mutation: Increased β-amyloid and neurofibrillary changes. Annals Neurol 1997;41:809-13
21. Reisberg B. Functional assessment staging (FAST) Psychopharmacol Bull 1988;24:653-59
22. Kim KS, Miller DL, Sapienza VJ, et al. Production and characterization of monoclonal antibodies reactive to synthetic cerebrovascular amyloid peptide. Neurosci Res Commun 1988;2:121-30
23. Kim K-S, Wegiel J, Sapienza V, Chen J, Hong H, Wisniewski HM. Immunoreactivity of presenilin-1 in human, rat and mouse brain. Brain Res 1997;757:159-63
24. Mirra SS, Hart MN, Terry RD. Making the diagnosis of Alzheimer disease. Arch Pathol Lab Med 1993;117:132-44
25. Wisniewski HM, Wegiel J, Kotula L. Some neuropathological aspects of Alzheimer disease and its relevance to other disciplines. Neuropathol Appl Neurobiol 1996;22:3-11
26. Wisniewski HM, Wegiel J, Wang KC, et al. Ultrastructural studies of the cells forming amyloid fibers in classical plaques. Can J Neurolog Sci 1989;16:535-42
27. Wegiel J, Wisniewski HM. The complex of microglial cells and amyloid star in three-dimensional reconstruction. Acta Neuropathol 1990;81:116-24
28. Amaral DG, Gowan WM. Subcortical afferents to the hippocampal formation in the monkey. J Comp Neurol 1980;189:573-91
29. Lorente de No R. Studies on the structure of the cerebral cortex. II. Continuation of the study of the ammonic system. J Psychol Neurol 1934;46:113-77
30. Steward O. Topographic organization of the projections from the entorhinal area to the hippocampal formation of the rat. J Comp Neurol 1976;167:286-314
31. Steward O, Scoville SA. Cells of origin of entorhinal cortical afferents to the hippocampus and fascia dentata of the rat. J Comp Neurol 1976;169:347-70
32. Witter MP, Griffioen AW, Jorritsma-Byham B, Krijnen JLM. Entorhinal projections to the hippocampal CA1 region in the rat: An underestimated pathway. Neurosci Lett 1988;85:193-98
33. Witter MP, Amaral DG. Entorhinal cortex of the monkey. V. Projections to the dentate gyrus, hippocampus, and subicular complex. J Comp Neurol 1991;307:437-59
34. Scheuner D, Eckman C, Jensen M, et al. Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer disease. Nature Med 1996;2:864-70
35. Borchelt DR, Thinakaran G, Eckman CB, et al. Familial Alzheimer disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron 1996;17:1005-13
36. Citron M, Westaway D, Xia W. Mutant presenilins of Alzheimer disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nature Med 1997;3:67-72
37. rd) residue. Proc Natl Acad Sci USA 1997;94:2025-30
38. Xia W, Zhang J, Kholodenko D, et al. Enhanced production and oligomerization of the 42-residue amyloid β-protein by Chinese hamster ovary cells stably expressing mutant presenilins. J. Biol. Chem. 1997;272:7977-82
39. Duff K, Eckman C, Zehr C. et al. Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1. Nature 1996;383: 710-13
40. Suzuki N, Cheung TT, Cai TT et al. An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (βAPP717) mutants. Science 1994;264:1336-40
41. Tamaoka A. Odaka A, Ishibashi Y et al. APP717 missense mutation affects the ratio of amyloid β protein species (Aβ1-42/43 and Aβ1-40) in familial Alzheimer disease brain. J Biol Chem 1994;269: 32721-24.
42. Mattson MP, Guo Q, Furukawa K, Pedersen WA. Presenilin, the endoplasmic reticulum, and neuronal apopotosis in Alzheimer disease. J Neurochem 1998;70:1-14
43. Maury CPJ, Nurmiaho-Lassila E-L, Liljestrom M. Alzheimer disease-associated presenilins 1 and 2: Acceleretaed amyloid fibril formation of mutant 410 Cys-Tyr and 141 Asn-Ile Peptides. Bioch Biophys Res Communic 1997;235:249-52
44. Wisniewski T, Dowjat WK, Permanne B et al. Presenilin-1 is associated with Alzheimer disease amyloid. Am J Pathol 1997;151: 601-10
45. Cribbs DH, Chen L, Bende SM, LaFeria FM. Widespread neuronal expression pf the presenilin-1 early-onset Alzheimer disease gene in the murine brain. Am J Pathol 1996;148:1797-806
46. Wisniewski HM, Wegiel J. β-amyloid formation by myocytes of leptomeningeal vessels. Acta Neuropathol 1994;87:233-41
47. Lee S-S, Stemmermann GN. Congophilic angiopathy and cerebral hemorrhage. Arch Pathol Lab Med 1978;102:317-21
48. Mandybur TI, Stephen RD, Bates SRD. Fatal massive intracerebral hemorrhage complicating cerebral amyloid angiopathy. Arch Neurol 1978;35:246-48
49. Okazaki H, Reagan TJ, Campbell RJ. Clinicopathologic studies of primary cerebral amyloid angiopathy. Mayo Clin Proc 1979;54: 22-31
50. Tomonaga M. Cerebral amyloid angiopathy in the elderly. J Am Geriatr Soc 1981;29:151-57
51. Thorack RM. Congophilic angiopathy complicated by surgery and massive hemorrhage. Am J Pathol 1975;81:349-66