Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease

Human Molecular Genetics

Volumn 6, Issue 11, 1997, Pages 1933-1936

  Lehmann, D J ^a   Johnston, C ^a   Smith, A D ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E4; CHOLINESTERASE;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CHROMOSOME 3; CONTROLLED STUDY; DEMENTIA; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; PRIORITY JOURNAL; PROTEIN VARIANT; RISK;

AGE OF ONSET; AGED; ALZHEIMER DISEASE; APOLIPOPROTEIN E4; APOLIPOPROTEINS E; BUTYRYLCHOLINESTERASE; GENOTYPE; HUMANS; VARIATION (GENETICS);

EID: 0030731562     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.11.1933     Document Type: Article

References (43)

1. Silver, A. (1974) The Biology of Cholinesterases. North Holland publications, Amsterdam, The Netherlands.
2. Perry, E.K., Perry, R.H., Blessed, G. and Tomlinson, B.E. (1978) Changes in brain cholinesterases in senile dementia of the Alzheimer type. Neuropathol. Appl. Neurobiol., 4, 273-277.
3. Perry, E.K. (1980) The cholinergic system in old age and Alzheimer's disease. Age Ageing, 9, 1-8.
4. Carson, K.A., Geula, C. and Mesulam, M.-M. (1991) Electron microscopic localization of cholinesterase activity in Alzheimer brain tissue. Brain Res., 540, 204-208.
5. Mesulam, M.-M., Carson, K., Price, B. and Geula, C. (1992) Cholinesterases in the amyloid angiopathy of Alzheimer's disease. Ann. Neurol., 31, 565-569.
6. Mesulam, M.-M. and Geula, C. (1994) Butyrylcholinesterase reactivity differentiates the amyloid plaques of aging from those of dementia. Ann. Neurol., 36, 722-727.
7. Geula, C. and Mesulam, M.-M. (1995) Cholinesterases and the pathology of Alzheimer disease. Alzheimer Dis. Assoc. Disord., 9 (Suppl. 2), 23-28.
8. Gómez-Ramos, P., Bouras, C. and Morán, M.A. (1994) Ultrastructural localization of butyrylcholinesterase on neurofibrillary degeneration sites in the brains of aged and Alzheimer's disease patients. Brain Res., 640, 17-24.
9. Bartels, C.F., Jensen, F.S., Lockridge, O., van der Spek, A.F.L., Rubinstein, H.M., Lubrano, T. and La Du, B.N. (1992) DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites. Am. J. Hum. Genet., 50, 1086-1103.
10. Evans, R.T. and Wardell, J. (1984) On the identification and frequency of the J and K cholinesterase phenotypes in a Caucasian population. J. Med. Genet., 21, 99-102.
11. k gene. Hum. Hered., 35, 364-368.
12. Saunders, A.M., Strittmatter, W.J., Schmechel, D., St. George-Hyslop, P.H., Pericak-Vance, M.A., Joo, S.H., Rosi, B.L., Gusella, J.F., Crapper-MacLachlan, D.R., Alberts, M.J., Hulette, C., Crain, B., Goldgaber, D. and Roses, A.D. (1993) Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease. Neurology, 43, 1467-1472.
13. Roses, A.D. (1996) Apolipoprotein E alleles as risk factors in Alzheimer's disease. Annu. Rev. Med., 47, 387-400.
14. Van Rensburg, S.J., Carstens, M.E., Potocnik, F.C.V., Aucamp, A.K. and Taljaard, J.J.F. (1993) Increased frequency of the transferrin C2 subtype in Alzheimer's disease. Neuroreport, 4, 1269-1271.
15. Gaughan, G., Park, H., Priddle, J., Craig, I. and Craig, S. (1991) Refinement of the localization of human butyrylcholinesterase to chromosome 3q26. 1-q26.2 using a PCR-derived probe. Genomics, 11, 455-458.
16. Yang, F., Lum, J.B., McGill, J.R., Moore, C.M., Naylor, S.L., van Bragt, P.H., Baldwin, W.D. and Bowman, B.H. (1984) Human transferrin: cDNA characterization and chromosomal localization. Proc. Natl Acad. Sci. USA, 81, 2752-2756.
17. Mahley, R.W. (1988) Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science, 240, 622-630.
18. Lawrence, S.H. and Melnick, P.J. (1961) Enzymatic activity related to human serum beta-lipoprotein: histochemical, immunoelectrophoretic and quantitative studies. Proc. Soc. Exp. Biol. Med., 107, 998-1001.
19. Kutty, K.M., Rowden, G. and Cox, A.R. (1973) Interrelationship between serum β-lipoprotein and cholinesterase. Can. J. Biochem., 51, 883-887.
20. Wright, C.I., Geula, C. and Mesulam, M.-M. (1993) Neuroglial cholinesterases in the normal brain and in Alzheimer's disease: relationship to plaques, tangles, and patterns of selective vulnerability. Ann. Neurol., 34, 373-384.
21. Diedrich, J.F., Minnigan, H., Carp, R.I., Whitaker, J.N., Race, R., Frey, W. and Haase, A.T. (1991) Neuropathological changes in scrapie and Alzheimer's disease are associated with increased expression of apolipoprotein E and cathepsin D in astrocytes. J. Virol., 65, 4759-4768.
22. Roessmann, U. and Friede, R.L. (1966) Changes in butyryl cholinesterase activity in reactive glia. Neurology, 16, 123-129.
23. Weisgraber, K.H., Pitas, R.E. and Mahley, R.W. (1994) Lipoproteins, neurobiology, and Alzheimer's disease: structure and function of apolipoprotein E. Curr. Opin. Struct. Biol., 4, 507-515.
24. Namba, Y., Tomonaga, M., Kawasaki, H., Otomo, E. and Ikeda, K. (1991) Apolipoprotein E immunoreactivity in cerebral amyloid deposits and neurofibrillary tangles in Alzheimer's disease and kuru plaque amyloid in Creutzfeldt-Jakob disease. Brain Res., 541, 163-166.
25. Rebeck, G.W., Reiter, J.S., Strickland, D.K. and Hyman, B.T. (1993) Apolipoprotein E in sporadic Alzheimer's disease - allelic variation and receptor interactions. Neuron, 11, 575-580.
26. Layer, P.G. and Kaulich, S. (1991) Cranial nerve growth in birds is preceded by cholinesterase expression during neural crest cell migration and the formation of an HNK-1 scaffold. Cell Tissue Res., 265, 393-407.
27. Layer, P.G., Weikert, T. and Alber, R. (1993) Cholinesterases regulate neunte growth of chick nerve cells in vitro by means of a non-enzymatic mechanism. Cell Tissue Res., 273, 219-226.
28. Layer, P.G. and Willbold, E. (1995) Novel functions of cholinesterases in development, physiology and disease. Prog. Histochem. Cytochem., 29 (3), 1-94.
29. Nathan, B.P., Bellosta, S., Sanan, D.A., Weisgraber, K.H., Mahley, R.W. and Pitas, R.E. (1994) Differential effects of apolipoproteins E3 and E4 on neuronal growth in vitro. Science, 264, 850-852.
30. Holtzman, D.M., Pitas, R.E., Kilbridge, J., Nathan, B., Mahley, R.W., Bu, G.J. and Schwartz, A.L. (1995) Low density lipoprotein receptor-related protein mediates apolipoprotein E-dependent neunte outgrowth in a central nervous system-derived neuronal cell line. Proc. Natl Acad. Sci. USA, 92, 9480-9484.
31. Nathan, B.P., Chang, K.-C., Bellosta, S., Brisch, E., Ge, N., Mahley, R.W. and Pitas, R.E. (1995) The inhibitory effect of apolipoprotein E4 on neurite outgrowth is associated with microtubule depolymerization. J. Biol. Chem., 270, 19791-19799.
32. Minor, D.L. and Kim, P.S. (1994) Measurement of the β-sheet-forming propensities of amino acids. Nature, 367, 660-663.
33. Pepys, M.B., Hawkins, P.N., Booth, D.R., Vigushin, D.M., Tennent, G.A., Sowar, A.K., Totty, N., Nguyen, O., Blake, C.C.F., Terry, C.J., Feest, T.G., Zalin, A.M. and Hsuan, J.J. (1993) Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature, 362, 553-557.
34. Saraiva, M.J., Almeida, M., Sherman, W., Gawinowicz, M., Costa, P., Costa, P.P. and Goodman, D.S. (1992) A new transthyretin mutation associated with amyloid cardiomyopathy. Am. J. Hum.Genet., 50, 1027-1030.
35. Utermann, G., Steinmetz, A. and Weber, W. (1982) Genetic control of human apolipoprotein E polymorphism: comparison of one-and two-dimensional techniques of isoprotein analysis. Hum. Genet., 60, 344-351.
36. Roses, A.D. (1997) A model for susceptibility polymorphisms for complex diseases: apolipoprotein E and Alzheimer disease. Neurogenetics, 1, 3-11.
37. Hoffman, A., Ott, A., Breteler, M.M., Bots, M.L., Slooter, A.J.C., van Harskamp, F., C., v. D., van Broeckhoven, C. and Grobbee, D.E. (1997) Atherosclerosis, apolipoprotein E, and prevalence of dementia and Alzheimer's disease in the Rotterdam study. Lancet, 349, 151-154.
38. Jobst, K.A., Smith, A.D., Szatmari, M., Molyneux, A., Esiri, M.M., King, E., Smith, A., Jaskowski, A., McDonald, B. and Wald, N. (1992) Detection in life of confirmed Alzheimer's disease using a simple measurement of medial temporal lobe atrophy by computed tomography. Lancet, 340, 1179-1183.
39. Mirra, S.S., Heyman, A., McKeel, D., Sumi, S.M., Crain, B.J., Brownlee, L.M., Vogel, F.S., Hughes, J.P., Vanbelle, G. and Berg, L. (1991) The Consortium to establish a registry for Alzheimer's Disease (CERAD). 2. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology, 41, 479-486.
40. McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D. and Stadlan E.M. (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA work group under the auspices of the Department of Health and Human Services task force of Alzheimer's disease. Neurology, 34, 939-944.
41. Roth, M., Huppert, F.A., Tym, E. and Mountjoy, C.Q. (1988) CAMDEX: The Cambridge Examination for Mental Disorders of the Elderly. Cambridge University Press, Cambridge.
42. Jensen, F.S., Nielsen, L.R. and Schwartz, M. (1996) Detection of the plasma cholinesterase K variant by PCR using an amplification-created restriction site. Hum. Hered., 46, 26-31.
43. Wenham, P.R., Price, W.H. and Blundell, G. (1991) Apolipoprotein E genotyping by one-stage PCR. Lancet, 337, 1158-1159.