Increased brain β-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism

Archives of Neurology

Volumn 60, Issue 1, 2003, Pages 29-35

  Papassotiropoulos, Andreas ^a   Streffer, Johannes R ^a   Tsolaki, Magdalini ^b   Schmid, Simon ^a   Thal, Dietmar ^c   Nicosia, Francesca ^d   Iakovidou, Vassiliki ^b   Maddalena, Alessia ^a   Lütjohann, Dieter ^e   Ghebremedhin, Estifanos ^c   Hegi, Thomas ^a   Pasch, Thomas ^a   Träxler, Muriel ^a   Brühl, Annette ^a   Benussi, Luisa ^d   Binetti, Giuliano ^d   Braak, Heiko ^c   Nitsch, Roger M ^a   Hock, Christoph ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^c GOETHE UNIVERSITY   (Germany)

^d Inst Ricovero Cura a Carattere Sci   (Italy)

^e UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; APOLIPOPROTEIN E4; CHOLESTEROL 24 HYDROXYLASE; CYTOCHROME P450; CYTOCHROME P450 46; OXYGENASE; TAU PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; BRAIN LEVEL; CHOLESTEROL METABOLISM; CHOLESTEROL TRANSPORT; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA POLYMORPHISM; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDROXYLATION; INTRON; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTEIN PHOSPHORYLATION; RISK ASSESSMENT;

EID: 0037227538     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.60.1.29     Document Type: Article

References (30)

1. Lund EG, Guileyardo JM, Russell DW. cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. Proc Natl Acad Sci U S A. 1999;96:7238-7243.
2. Bjorkhem I, Lütjohann D, Breuer O, Sakinis A, Wennmalm A. Importance of a novel oxidative mechanism for elimination of brain cholesterol: turnover of cholesterol and 24(S)-hydroxycholesterol in rat brain as measured with 1802 techniques in vivo and in vitro. J Biol Chem. 1997;272:30178-30184.
3. Bjorkhem I, Lütjohann D, Diczfalusy U, Stahle L, Ahiborg G, Wahren J Cholesterol homeostasis in human brain: turnover of 24S-hydroxycholesterol and evidence for a cerebral origin of most of this oxysterol in the circulation. J Lipid Res. 1998;39:1594-1600.
4. Lütjohann D, Breuer O, Ahlborg G, et al. Cholesterol homeostasis in human brain: evidence for an age-dependent flux of 24S-hydroxycholesterol from the brain into the circulation. Proc Natl Acad Sci U S A. 1996;93:9799-9804.
5. Simons M, Keller P, De Strooper B, Beyreuther K. Dotti CG, Simons K Cholesterol depletion inhibits the generation of β-amyloid in hippocampal neurons. Proc Natl Acad Sci U S A. 1998;95:6460-6464.
6. Fassbender K, Simons M, Bergmann C, et al. Simvastatin strongly reduces levels of Alzheimer's disease beta-amyloid peptides Aβ 42 and Aβ 40 in vitro and in vivo. Proc Natl Acad Sci U S A. 2001;98:5856-5861.
7. Jick H, Zornberg GL, Jick SS, Seshadri S, Drachman DA. Statins and the risk of dementia [published correction appears in Lancet. 2001;357:562]. Lancet. 2000;356:1627-1631.
8. Wolozin B, Kellman W, Ruosseau P, Celesia GG, Siegel G. Decreased prevalence of Alzheimer disease associated with 3-hydroxy-3-methyglutaryl coenzyme A reductase inhibitors. Arch Neurol 2000;57:1439-1443.
9. Gotz J, Chen F, van Dorpe J, Nitsch RM. Formation of neurofibrillary tangles in P3011 tau transgenic mice Induced by Aβ 42 fibrils. Science. 2001;293:1491-1495.
10. Lewis J, Dickson DW, Lin WL, et al. Enhanced neurofibrillary degeneration in transgeric mice expressing mutant tau and APP. Science. 2001;293:1487-1491.
11. Auer IA, Schmidt ML, Lee VM, et al. Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease. Acta Neuropathol (Berl). 1995;90:547-551.
12. Sawamura N, Gong JS, Garver WS, et al. Site-specific phosphorylation of tau accompanied by activation of mitogen-activated protein kinase (MAPK) in brains of Niemann-Pick type C mice. J Biol Chem. 2001;276:10314-10319.
13. Freely associating [editorial]. Nat Genet. 1999;22:1-2.
14. Sullivan PF, Eaves LJ, Kendler KS, Neale MC. Genetic case-control association studies in neuropsychiatry. Arch Gen Psychiatry. 2001;58:1015-1024.
15. Kamboh MI, Sanghera DK, Ferrell RE, DeKosky ST. APOE*4-associated Alzheimer's disease risk is modified by α1-antichymotrypsin polymorphism. Nat Genet. 1995;10:486-488.
16. Hughes CP, Berg L, Danziger WL, Coben LA, Martin RL. A new clinical scale for the staging of dementia. BrJPsychiatry. 1982;140:566-572.
17. Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol (Berl). 1991;82:239-259.
18. Thai DR, Rub U, Schultz O, et al. Sequence of Aβ-protein deposition in the human medial temporal lobe. J Neuropathol Exp Neurol. 2000;59:733-748.
19. Morris JC, Heyman A, Mohs RC, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD), I: clinical and neuropsychological assessment of Alzheimer's disease. Neurology. 1989;39:1159-1165.
20. 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.
21. Vanmechelen E, Vanderstichele H, Davidsson P, et al. Quantification of tau phosphorylated at threonine 181 in human cerebrospinal fluid: a sandwich ELISA with a synthetic phosphopeptide for standardization. Neurosci Lett. 2000;285:49-52.
22. Dzeletovic S, Breuer O, Lund E, Diczfalusy U. Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry. Anal Biochem. 1995;225:73-80.
23. Terwilliger JD, Ott J. Linkage disequilibrium between alleles at marker loci. In: Terwilliger JD, Ott J, eds. Handbook of Human Genetic Linkage. Baltimore, Md: Johns Hopkins University Press; 1994:189-198.
24. Bodovitz S, Klein WL. Cholesterol modulates α-secretase cleavage of amyloid precursor protein. J Biol Chem. 1996;271:4436-4440.
25. Kojro E, Gimpl G, Lammich S, Marz W, Fahrenholz F. Low cholesterol stimulates the nonamyloidogenic pathway by its effect on the α-secretase ADAM 10. Proc Natl Acad Sci U S A. 2001;98:5815-5820.
26. Bogdanovic N, Bretillon L, Lund EG, et al. On the turnover of brain cholesterol in patients with Alzheimer's disease: abnormal induction of the cholesterolcatabolic enzyme CYP46 in glial cells. Neurosci Lett. 2001;314:45-48.
27. Papassotiropoulos A, Lütjohann D, Bagli M, et al. 24S-hydroxycholesterol in cerebrospinal fluid is elevated in early stages of dementia. J Psychiatr Res. 2002;36:27-32.
28. Papassotiropoulos A, Lütjohann D, Bagli M, et al. Plasma 24S-hydroxycholesterol: a peripheral indicator of neuronal degeneration and potential state marker for Alzheimer's disease. Neuroreport. 2000;11:1959-1962.
29. Wang X, DeKosky ST, Ikonomovic MD, Kamboh MI. Distribution of plasma α 1-antichymotrypsin levels in Alzheimer disease patients and controls and their genetic controls. Neurobiol Aging. 2002;23:377-382.
30. Dermaut B, Theuns J, Sleegers K, et al. The gene encoding nicastrin, a major γ-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. Am J Hum Genet. 2002;70:1568-1574.