title: alpha-1-Antichymotrypsin polymorphism in the gene promoter region affects survival and synapsis loss in Alzheimer's disease.
abstract: One-hundred-thirty-tree patients with neuropathologically confirmed Alzheimer's disease (AD) were genotyped for the polymorphic regions in the apolipoprotein Eepsilon (APOE)and a new polymorphism in the promoter region of the alpha-1-antichymotrypsin (ACT) gene. The ACT TT genotype was associated with a longer survival of AD patients, and among patients with the APOE epsilon4 allele, this genotype increased the duration of the disease. The ACT TT genotype was also associated with a late age at onset of the disease and a delayed age at death in patients without the APOE epsilon4 allele. This latter group of patients also showed increased levels of synaptophysin from the mid-frontal (MF) cortex area. ACT appears to play complex, multiple roles on AD and to affect synaptic plasticity in the AD brain of patients without the allele APOE epsilon4 allele.
authors.affiliation: Department of Experimental Pathology, School of Medicine, University of Bologna, I-40126 Bologna, Italy. licastro@alma.unibo.it
authors.forename: F
authors.initials: F
authors.lastname: Licastro
authors.forename: M
authors.initials: M
authors.lastname: Chiappelli
authors.forename: L J
authors.initials: LJ
authors.lastname: Thal
authors.forename: E
authors.initials: E
authors.lastname: Masliah
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics / Q000401:mortality / Q000473:pathology; D001057:Apolipoproteins E / Q000235:genetics; D001921:Brain / Q000473:pathology*; D005260:Female; D015870:Gene Expression; D005838:Genotype; D006801:Humans; D008297:Male; D009410:Nerve Degeneration / Q000473:pathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D015996:Survival Rate; D013569:Synapses / Q000473:pathology*; D016708:Synaptophysin / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; C043392:SERPINA1 protein, human; D016708:Synaptophysin; D000515:alpha 1-Antitrypsin