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朊蛋白(PrP)基因第129密码子多态性与脑老化神经病理学

Polymorphism of the codon 129 of the prion protein (PrP) gene and neuropathology of cerebral ageing.

作者信息

Berr Claudine, Helbecque Nicole, Sazdovitch Véronique, Mohr Michel, Amant Carole, Amouyel Philippe, Alpérovitch Annick, Hauw Jean-Jacques

机构信息

INSERM U360, Recherches Epidémiologiques en Neurologie et Psychopathologie, Hôpital de la Salpêtrière, 75651 Paris Cedex 13, France.

出版信息

Acta Neuropathol. 2003 Jul;106(1):71-4. doi: 10.1007/s00401-003-0700-7. Epub 2003 Apr 5.

Abstract

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.

摘要

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。

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