朊病毒蛋白 M129V 多态性：波兰百岁老人的长寿和认知障碍。
The prion protein M129V polymorphism: longevity and cognitive impairment among Polish centenarians.
机构信息
Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland.
出版信息
Prion. 2013 May-Jun;7(3):244-7. doi: 10.4161/pri.23903. Epub 2013 Feb 13.
The PRNP gene encodes the cellular isoform of prion protein (PrP (c) ). The M129V polymorphism influences the risk of prion diseases and may modulate the rate of neurodegeneration with age. We present the first study of the polymorphism among Polish centenarians. In the control group (n = 165, ages 18 to 56 years) the observed M129V genotype frequencies agreed with those expected according to the Hardy-Weinberg equilibrium (MM, MV, VV): 43%, 44%, 13% (HWE p > 0.05). Among centenarians (n = 150, ages 100 to 107) both homozygotes were more common than expected and HWE was rejected: 46%, 37%, 17% (expected 42%, 46%, 13%; HWE p = 0.025). This finding is consistent with a higher mortality rate among heterozygotes. However, the observed allele and genotype frequencies did not differ significantly between the oldest-old and the young controls. The genotypic frequencies were not related to severe cognitive impairment among the centenarians.
PRNP 基因编码朊病毒蛋白（PrP（c））的细胞同工型。M129V 多态性影响朊病毒病的风险，并且可能调节与年龄相关的神经退行性变的速度。我们首次在波兰百岁老人中研究了该多态性。在对照组（n = 165，年龄 18 至 56 岁）中，观察到的 M129V 基因型频率与 Hardy-Weinberg 平衡（MM、MV、VV）预期的频率一致：43%、44%、13%（HWE p > 0.05）。在百岁老人中（n = 150，年龄 100 至 107 岁），纯合子比预期更常见，且 HWE 被拒绝：46%、37%、17%（预期 42%、46%、13%；HWE p = 0.025）。这一发现与杂合子死亡率较高一致。然而，观察到的等位基因和基因型频率在最年长的对照组和年轻对照组之间没有显著差异。百岁老人中，基因型频率与严重认知障碍无关。
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