Polymorphism of the codon 129 of the prion protein (PrP) gene and neuropathology of cerebral ageing.
We studied whether codon 129 polymorphism of the PrP gene modulates the presence of tau- and Abeta-associated lesions among 188 patients over 70 years of age without evidence of dementia. Val allele carriers, either heterozygotes or homozygotes, were more frequently affected by Abeta-associated lesions than non Val allele carriers, whereas there were no differences for tau-positive neurones. Val allele carriers also had more focal and diffuse Abeta deposits. This association was most significant in the highest Braak's stages for neurofibrillary tangles (>/=III). In this group, cases with at least one Val allele had nearly twice as many Abeta-associated lesions. The most affected areas were the entorhinal cortex, TF-TH and the superior temporal cortex, where odds ratios for focal Abeta deposits ranged from 3.5 to 4.6.
Berr
Claudine
C
INSERM U360, Recherches Epidémiologiques en Neurologie et Psychopathologie, Hôpital de la Salpêtrière, 75651 Paris Cedex 13, France.
Helbecque
Nicole
N
Sazdovitch
Véronique
V
Mohr
Michel
M
Amant
Carole
C
Amouyel
Philippe
P
Alpérovitch
Annick
A
Hauw
Jean-Jacques
JJ
D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000473:pathology*; D016229:Amyloid beta-Peptides / Q000378:metabolism; D000704:Analysis of Variance; D001921:Brain / Q000378:metabolism / Q000473:pathology; D016009:Chi-Square Distribution; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D016874:Neurofibrillary Tangles / Q000473:pathology; D058225:Plaque, Amyloid / Q000473:pathology; D011110:Polymorphism, Genetic; D011328:Prions / Q000235:genetics* / Q000378:metabolism; D014633:Valine / Q000235:genetics; D016875:tau Proteins / Q000378:metabolism
D016229:Amyloid beta-Peptides; D003062:Codon; D011328:Prions; D016875:tau Proteins; D008715:Methionine; D014633:Valine