Genetic polymorphism of cathepsin D is strongly associated with the risk for developing sporadic Alzheimer's disease

Neuroscience Letters

Volumn 262, Issue 3, 1999, Pages 171-174

  Papassotiropoulos, Andreas ^a   Bagli, Metin ^a   Feder, Oliver ^a   Jessen, Frank ^a   Maier, Wolfgang ^a   Rao, Marie Luise ^a   Ludwig, Michael ^b   Schwab, Sibylle G ^a   Heun, Reinhard ^a  

^a Sigmund Freud Strasse 25 53105 ^*  (Germany)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

Alzheimer's disease; Association; Beta secretase; Case control study; Cathepsin D; Polymorphism

Indexed keywords

ALANINE; AMYLOID BETA PROTEIN; APOLIPOPROTEIN E4; CATHEPSIN D; VALINE;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DEMENTIA; DEPRESSION; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK ASSESSMENT;

AGED; AGED, 80 AND OVER; ALANINE; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; APOLIPOPROTEIN E4; APOLIPOPROTEINS E; CATHEPSIN D; DEPRESSION; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; REFERENCE VALUES; RISK FACTORS; VALINE;

EID: 0033548409     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(99)00071-3     Document Type: Article

References (20)

1. Bressler S.L., Gray M.D., Sopher B.L., Hu Q., Hearn M.G., Pham D.G., Dinulos M.B., Fukuchi K., Sisodia S.S., Miller M.A., Disteche C.M., Martin G.M. cDNA cloning and chromosome mapping of the human Fe65 gene: interaction of the conserved cytoplasmic domains of the human beta-amyloid precursor protein and its homologues with the mouse Fe65 protein. Hum. Mol. Genet. 5:1996;1589-1598.
2. Callahan L.M., Chow N., Cheetham J.E., Cox C., Coleman P.D. Analysis of message expression in single neurons of Alzheimer's disease brain. Neurobiol. Aging. 19(1):1998;99-105.
3. Cataldo A.M., Barnett J.L., Pieroni C., Nixon R.A. Increased neuronal endocytosis and protease delivery to early endosomes in sporadic Alzheimer's disease: neuropathologic evidence for a mechanism of increased beta-amyloidogenesis. J. Neurosci. 17:1997;6142-6151.
4. Cataldo A.M., Hamilton D.J., Barnett J.L., Paskevich P.A., Nixon R.A. Properties of the endosomal-lysosomal system in the human central nervous system: disturbances mark most neurons in populations at risk to degenerate in Alzheimer's disease. J. Neurosci. 16:1996;186-199.
5. Chevallier N., Vizzavona J., Marambaud P., Baur C.P., Spillantini M., Fulcrand P., Martinez J., Goedert M., Vincent J.P., Checler F. Cathepsin D displays in vitro betasecretase-like specificity. Brain Res. 750:1997;11-19.
6. Citron M., Teplow D.B., Selkoe D.J. Generation of amyloid beta protein from its precursor is sequence specific. Neuron. 14:1995;661-670.
7. Copeland J.R., Davidson I.A., Dewey M.E., Gilmore C., Larkin B.A., McWilliam C., Saunders P.A., Scott A., Sharma V., Sullivan C. Alzheimer's disease. other dementias, depression and pseudodementia: prevalence, incidence and three-year outcome in Liverpool. Br. J. Psychiatry. 161:1992;230-239.
8. Guenette S.Y., Chen J., Jondro P.D., Tanzi R.E. Association of a novel human FE65-like protein with the cytoplasmic domain of the beta-amyloid precursor protein. Proc. Natl. Acad. Sci. USA. 93:1996;10832-10837.
9. Henry I., Grandjouan S., Barichard F., Huerre-Jeanpierre C., Junien C. Subregional mapping of BOOS, CTSD, MYOD1, and a T-ALL breakpoint in 11p15. Cytogenet. Cell Genet. 51:1989;1013.
10. Hixson J.E., Vernier D.T. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J. Lipid Res. 31:1990;545-548.
11. Hooper N.M., Karran E.H., Turner A.J. Membrane protein secretases. Biochem. J. 321:1997;265-279.
12. Kenessey A., Nacharaju P., Ko L.W., Yen S.H. Degradation of tau by lysosomal enzyme cathepsin D: implication for Alzheimer neurofibrillary degeneration. J. Neurochem. 69:1997;2026-2038.
13. McDermott J.R., Gibson A.M. Degradation of Alzheimer's beta-amyloid protein by human cathepsin D. NeuroReport. 7:1996;2163-2166.
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. Peraus G.C., Masters C.L., Beyreuther K. Late compartments of amyloid precursor protein transport in SY5Y cells are involved in beta-amyloid secretion. J. Neurosci. 17:1997;7714-7724.
16. Saftig P., Peters C., von Figura K., Craessaerts K., Van Leuven F., De Strooper B. Amyloidogenic processing of human amyloid precursor protein in hippocampal neurons devoid of cathepsin D. J. Biol. Chem. 271:1996;27241-27244.
17. Sisodia S.S., Price D.L. Role of the beta-amyloid protein in Alzheimer's disease. FASEB J. 9:1995;366-370.
18. Speck C.E., Kukull W.A., Brenner D.E., Bowen J.D., McCormick W.C., Teri L., Pfanschmidt M.L., Thompson J.D., Larson E.B. History of depression as a risk factor for Alzheimer's disease. Epidemiology. 6:1995;366-369.
19. Touitou I., Capony F., Brouillet J.P., Rochefort H. Missense polymorphiser (C/T224) in the human cathepsin D pro-fragment determined by polymerase chain reaction single strand conformational polymorphism analysis and possible consequences in cancer cells. Eur. J. Cancer. 30A:1994;390-394.
20. Zambrano N., Buxbaum J.D., Minopoli G., Fiore F., De Candia P., De Renzis S., Faraonio R., Sabo S., Cheetham J., Sudol M., Russo T. Interaction of the phosphotyrosine interaction/phosphotyrosine binding-related domains of Fe65 with wild-type and mutant Alzheimer's beta-amyloid precursor proteins. J. Biol. Chem. 272:1997;6399-6405.