Transgenic mice over-expressing the C-99 fragment of βPP with an α- secretase site mutation develop a myopathy similar to human inclusion body myositis

American Journal of Pathology

Volumn 153, Issue 6, 1998, Pages 1679-1686

  Jin, Lee Way ^a,b   Hearn, Mark G ^a   Ogburn, Charles E ^a   Dang, Ngocthao ^a   Nochlin, David ^a   Ladiges, Warren C ^a   Martin, George M ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; THIOFLAVINE;

ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; GENE OVEREXPRESSION; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; INCLUSION BODY MYOSITIS; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SARCOPLASMIC RETICULUM; SITE DIRECTED MUTAGENESIS; SKELETAL MUSCLE; TRANSGENIC MOUSE;

EID: 0031740915     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)65681-7     Document Type: Article

References (44)

1. Askanas V, Engel WK: New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Curr Opin Rheumatol 1995, 7:486-496
2. Carpenter S: Inclusion body myositis, a review. J Neuropathol Exp Neurol 1996, 55:1105-1114
3. Mendell JR, Sahenk Z, Gales T, Paul L: Amyloid filaments in inclusion body myositis: novel findings provide new insights into nature of filaments. Arch Neurol 1991, 48:1229-1234
4. Askanas V, Engel WK, Bilak M, Alvarez RB, Selkoe DJ: Twisted tubulofilaments of inclusion-body myositis muscle resemble paired helical filaments of Alzheimer brain and contain hyperphosphorylated tau. Am J Pathol 1994, 144:177-185.
5. Askanas V, Engel WK, Alvarez RB: Light and electron microscopic localization of β-amyloid protein in muscle biopsies of patients with inclusion-body myositis. Am J Pathol 1992, 141:31-36.
6. Askanas V, Alvarez RB, Engel WK: β-Amyloid precursor epitopes in muscle fibers of inclusion body myositis. Ann Neurol 1993, 34:551-560
7. Villanova M, Kawai M, Lubke U, Oh SJ, Perry G, Six J, Geuterick C, Martin JJ, Cras P: Rimmed vacuoles of inclusion body myositis and oculopharyngeal dystrophy contain amyloid precursor protein and lysosomal markers. Brain Res 1993, 603:343-347
8. Mirabella M, Alvarez RB, Bilak M, Engel WK, Askanas V: Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies. J Neuropathol Exp Neurol 1996, 55:1179-1180.
9. 1-anti-chymotrypsin colocalizes with β-amyloid protein and ubiquitin in vacuolated muscle fibers of inclusion-body myositis. Acta Neuropathol 1993, 85:378-382.
10. Askanas V, Mirabella M, Engel WK, Alvarez RB, Weisgraber KH: Apolipoprotein E immunoreactive deposits in inclusion-body muscle diseases. Lancet 1994, 343:364-365
11. Mirabella M, Alvarez RB, Engel WK, Weisgraber KH, Askanas V: Apolipoprotein E and apolipoprotein E messenger RNA in muscle of inclusion-body myositis and myopathies. Ann Neurol 1996, 40:864-872
12. Askanas V, Serdaroglu P, Engel WK: Immunolocalization of ubiquitin in muscle biopsies of patients with inclusion body myositis and oculopharyngeal muscular dystrophy. Neurosci Lett 1991, 130:73-76
13. Albrecht S, Bilbao JM: Ubiquitin expression in inclusion body myositis. Arch Pathol Lab Med 1993, 117:789-793
14. Askanas V, Bilak M, Engel WK, Alvarez RB, Tomé F, Leclerc A: Prion protein is abnormally accumulated in inclusion-body myositis. NeuroReport 1993, 5:25-28
15. Askanas V, Engel WK, Yang C-C, Alvarez RB, Lee VM, Wisniewski T: Light and electron microscopic immunolocalization of presenilin 1 in abnormal muscle fibers of patients with sporadic inclusion-body myositis and autosomal-recessive inclusion-body myopathy. Am J Pathol 1998, 152:889-895
16. Yoshikawa K, Aizawa T, Hayashi Y: Degeneration in vitro of postmitotic neurons overexpressing the Alzheimer amyloid protein precursor. Nature 1992, 359:64-67
17. Maruyama K, Kumagae Y, Saito Y, Yamao-Harigaya W, Usami M, Ishiura S, Kawashima S, Obata K: The toxic effect of Alzheimer amyloid protein precursor overexpressed in the neuroblastoma cell line NB-1 on neurite outgrowth. Gerontology 1994, 40:57-64
18. Yankner BA, Dawes LR, Fisher S, Villa-Komaroff L, Oster-Granite ML, Neve RL: Neurotoxicity of a fragment of the amyloid precursor associated with Alzheimer's disease. Science 1989, 245:417-420
19. Oster-Granite ML, McPhie DL, Greenan J, Neve RL: Age-dependent neuronal and synaptic degeneration in mice transgenic for the C terminus of the amyloid precursor protein. J Neurosci 1996, 16:6732-6741
20. Fukuchi K, Kamino K, Deeb SS, Smith AC, Dang T, Martin GM: Overexpression of amyloid precursor protein alters its normal processing and is associated with neurotoxicity. Biochem Biophys Res Commun 1992, 182:165-173
21. Fukuchi K, Kamino K, Deeb SS, Furlong CE, Sundstrom JA, Smith AC, Martin GM: Expression of a carboxy-terminal region of the β-amyloid precursor protein in a heterogeneous culture of neuroblastoma cells: evidence for altered processing and selective neurotoxicity. Mol Brain Res 1992, 16:37-46
22. Sopher BL, Fukuchi K, Smith AC, Leppig KA, Furlong CE, Martin GM: Cytotoxicity mediated by conditional expression of a carboxyl-terminal derivative of the β-amyloid precursor protein. Mol Brain Res 1994, 26:207-217
23. Estus S, Golde TE, Kunishita T, Blades D, Lowery D, Eisen M, Usiak M, Qu XM, Tabira T, Greenberg BD, Younkin SG: Potentially amyloidogenic, carboxyl-terminal derivatives of the almyloid protein precursor. Science 1992, 255:726-728
24. McPhie DL, Lee RKK, Eckman CB, Olstein DH, Durham SP, Yager D, Younkin SG, Wurtman RJ, Neve RL: Neuronal expression of β-amyloid precursor protein Alzheimer mutations causes intracellular accumulation of a C-terminal fragment containing both the amyloid β and cytoplasmic domains. J Biol Chem 1997, 272:24743-24746
25. Sternberger LW: Immunocytochemistry, ed 3. New York, Wiley, 1986
26. Hsu SM, Raine L, Fanger H: Use of avidin biotin-peroxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures. J Histochem Cytochem 1981, 29:577-580
27. Kitamoto T, Ogomori K, Tateishi J, Prusiner SB: Formic acid pretreatment enhances immunostaining of cerebral and systemic amyloids Lab Invest 1987, 57:230-236
28. Esch FS, Keim PS, Beattie EC, Blacher RW, Culwell AR, Oltersdorf T, McClure D, Ward PJ: Cleavage of amyloid β peptide during constitutive processing ot its precursor. Science 1990, 248:1122-1124
29. Kang J, Lemair HG, Unterbeck A, Salbaum JM, Masters CL, Grzeschik KH, Multhaup G, Beyreuther K, Müller-Hill B: The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature 1987, 325:733-736
30. Sisodia SS: β-Amyloid precursor protein cleavage by a membrane-bound protease. Proc Natl Acad Sci USA 1992, 89:6075-6079
31. Fukuchi K, Ho L, Younkin SG, Kunkel DD, Ogburn CE, LeBoeuf RC, Furlong CE, Deeb SS, Nochlin D, Wegiel J, Wisniewski HM, Martin GM: High levels of circulating β-amyloid peptide do not cause cerebral β-amyloidosis in transgenic mice. Am J Pathol 1996, 149:219-227
32. Jongen PJ, Ter-Laak H-J, Stadhouders AM: Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Neuromuscul Disord 1995, 5:31-38
33. Eisen A, Berry K, Gibson G: Inclusion body myositis (IBM): myopathy or neuropathy? Neurology 1983, 33:1109-1114
34. Joy JL, Oh SJ, Baysal AI: Electrophysiological spectrum of inclusion body myositis. Muscle Nerve 1990, 13:949-951
35. Luciano CA, Dalakas MC: Inclusion body myositis: no evidence for a neurogenic component. Neurology 1997, 48:29-33
36. Selkoe DJ: Amyloid β-protein and the genetics of Alzheimer's disease. J Biol Chem 1996, 271:18295-18298
37. Koo EH, Squazzo SL, Selkoe DJ, Koo CH: Trafficking of cell-surface amyloid β-protein precursor. I. Secretion, endocytosis and recycling as detected by labeled monoclonal antibody. J Cell Sci 1996, 109: 991-998
38. Koo EH, Squazzo SL: Evidence that production and release of amyloid β-protein involves the endocytic pathway. J Biol Chem 1994, 269:17386-17389
39. Lai A, Sisodia SS, Trowbridge IS: Characterization of sorting signals in the β-amyloid precursor protein cytoplasmic domain. J Biol Chem 1995, 270:3565-3573
40. Hartmann T, Bieger SC, Bruhl B, Tienari PJ, Ida N, Allsop D, Roberts GW, Masters CL, Dotti CG, Unsicker K, Beyreuther K: Distinct sites of intracellular production for Alzheimer's disease Aβ40/42 amyloid peptides. Nature Med 1997, 3:1016-1020
41. Stovronsky DM, Doms RM, Lee VM: Detection of a novel intraneuronal pool of insoluble amyloid β protein that accumulates with time in culture. J Cell Biol 1988, 141:1031-1039
42. Wiley CA, Burrola PG, Buchmeier MJ, Wooddell MK, Barry RA, Prusiner SB, Lampert PW: Immuno-gold localization of prion filaments in scrapie-infected hamster brains. Lab Invest 1987, 57:646-656
43. Jin L-W, Nochlin D, Born DE, Bird T: Filamentous intraneuronal depositions in a patient with telencephalic Gerstmann-Sträussler syndrome. Ann Neurol 1997, 42:402
44. Hardy J, Allsop D: Amyloid deposition as the central event in the aetiology of Alzheimer's disease. Trends Pharmacol Sci 1991, 12: 383-388