Berr Claudine, Helbecque Nicole, Sazdovitch Véronique, Mohr Michel, Amant Carole, Amouyel Philippe, Alpérovitch Annick, Hauw Jean-Jacques
INSERM U360, Recherches Epidémiologiques en Neurologie et Psychopathologie, Hôpital de la Salpêtrière, 75651 Paris Cedex 13, France.
Acta Neuropathol. 2003 Jul;106(1):71-4. doi: 10.1007/s00401-003-0700-7. Epub 2003 Apr 5.
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.
我们研究了188名70岁以上无痴呆证据患者中,朊蛋白(PrP)基因第129位密码子多态性是否会调节与tau蛋白和β淀粉样蛋白(Aβ)相关病变的出现情况。缬氨酸(Val)等位基因携带者,无论是杂合子还是纯合子,比非Val等位基因携带者更易出现与Aβ相关的病变,而tau阳性神经元方面则无差异。Val等位基因携带者还具有更多局灶性和弥漫性Aβ沉积。这种关联在神经纤维缠结的最高Braak分期(≥III期)中最为显著。在该组中,至少携带一个Val等位基因的病例,其与Aβ相关的病变数量几乎是非携带者的两倍。受影响最严重的区域是内嗅皮质、TF-TH和颞上皮质,局灶性Aβ沉积的优势比在3.5至4.6之间。