Zuccato Chiara, Marullo Manuela, Conforti Paola, MacDonald Marcy E, Tartari Marzia, Cattaneo Elena
Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, Milan, Italy.
Brain Pathol. 2008 Apr;18(2):225-38. doi: 10.1111/j.1750-3639.2007.00111.x. Epub 2007 Dec 17.
One cardinal feature of Huntington's disease (HD) is the degeneration of striatal neurons, whose survival greatly depends on the binding of cortical brain-derived neurotrophic factor (BDNF) with high-affinity (TrkB) and low-affinity neurotrophin receptors [p75 pan-neurotrophin receptor (p75(NTR))]. With a few exceptions, results obtained in HD mouse models demonstrate a reduction in cortical BDNF mRNA and protein, although autopsy data from a limited number of human HD cortices are conflicting. These studies indicate the presence of defects in cortical BDNF gene transcription and transport to striatum. We provide new evidence indicating a significant reduction in BDNF mRNA and protein in the cortex of 20 HD subjects in comparison with 17 controls, which supports the hypothesis of impaired BDNF production in human HD cortex. Analyses of the BDNF isoforms show that transcription from BDNF promoter II and IV is down-regulated in human HD cortex from an early symptomatic stage. We also found that TrkB mRNA levels are reduced in caudate tissue but not in the cortex, whereas the mRNA levels of T-Shc (a truncated TrkB isoform) and p75(NTR) are increased in the caudate. This indicates that, in addition to the reduction in BDNF mRNA, there is also unbalanced neurotrophic receptor signaling in HD.
亨廷顿舞蹈症(HD)的一个主要特征是纹状体神经元的退化,其存活很大程度上依赖于皮质源性神经营养因子(BDNF)与高亲和力(TrkB)和低亲和力神经营养因子受体[p75泛神经营养因子受体(p75(NTR))]的结合。除了少数例外情况,HD小鼠模型的研究结果显示皮质BDNF信使核糖核酸(mRNA)和蛋白质减少,尽管来自有限数量人类HD皮质的尸检数据存在矛盾。这些研究表明皮质BDNF基因转录和向纹状体运输存在缺陷。我们提供了新的证据,表明与17名对照者相比,20名HD患者皮质中的BDNF mRNA和蛋白质显著减少,这支持了人类HD皮质中BDNF产生受损的假说。对BDNF亚型的分析表明,从有症状早期开始,人类HD皮质中BDNF启动子II和IV的转录就下调。我们还发现,尾状核组织中TrkB mRNA水平降低,但皮质中未降低,而尾状核中T-Shc(一种截短的TrkB亚型)和p75(NTR)的mRNA水平升高。这表明,除了BDNF mRNA减少外,HD中神经营养受体信号也失衡。