Deficits in social-cognition processing have been identified during early stages of Huntington Disease (HD), attracting interest on their relevance as possible predictors of neurodegenerative progression. Since the neurotrophin Brain-Derived Neurotrophic Factor (BDNF) and the serotonin (5-HT) transporter (SERT) are known to modulate human adaptive behavior, we appraised these two proteins in mild-HD using blood platelets, with the aim at finding relationships with cognitive/psychosocial skills. Thirteen gene positive and symptomatic patients (9M/4W, HD-stage II, age> 40y) together 11 gender/age matched controls without a concurrent diagnosis of psychiatric disorders, underwent a blood test to determine BDNF storage and membrane-bound SERT in platelets by an ELISA immune-enzyme dosage and [3H]-paroxetine ([3H]-PAR) binding, respectively. Enrolled subjects were concurrently evaluated through a battery of socio-cognitive tests and emotion recognition questionnaires.Results showed greater intra-platelet BDNF (~ +20-22%) in patients versus controls, whereas equilibrium [3H]-PAR binding parameters, maximum density (Bmax) and dissociation constant (KD), did not appreciably vary in the two comparison groups. Cognitive/emotion abilities were found significantly reduced in patients. Additionally, platelet BDNF was unrelated to psycho-cognitive scores, but positively correlated with the illness duration. As well, SERT Bmax was unconnected to HD signs or socio-cognitive scores, whilst KDs negatively correlated with scores for angry voice recognition in both controls and patients. This pilot study suggests that platelet BDNF and SERT do not specifically underlie psychosocial deficits in stage II-HD, while higher BDNF storage in delayed mild symptoms, would derive from compensatory mechanisms. Supplementary investigations are warranted, by also comparing patients in other illness's phases.

中文翻译：

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轻度亨廷顿氏病患者血小板中的脑源性神经营养因子（BDNF）和血清素转运蛋白（SERT）：与社会认知症状的关系。

在亨廷顿病（HD）的早期阶段就已经发现社会认知过程中的缺陷，引起人们对其神经退行性进展可能的预测因素的兴趣。由于已知神经营养蛋白脑源性神经营养因子（BDNF）和5-羟色胺（5-HT）转运蛋白（SERT）可以调节人类适应行为，因此我们使用血小板对这两种蛋白进行了轻度高清评估，目的是寻找关系具有认知/社会心理技能。13名基因阳性和有症状的患者（9M / 4W，II期HD期，年龄> 40岁）和11名性别/年龄相匹配的对照患者，未同时诊断出精神疾病，接受了血液检查以确定血小板中的BDNF储存和膜结合性SERT分别通过ELISA免疫酶剂量和[3H]-帕罗西汀（[3H] -PAR）结合。通过一系列社会认知测试和情绪识别问卷对入选受试者进行了同时评估。结果显示，与对照组相比，患者的血小板内BDNF（〜+ 20-22％）更高，而平衡的[3H] -PAR结合参数，最大密度（Bmax）和解离常数（KD）在两个比较组中没有明显变化。发现患者的认知/情感能力明显降低。此外，血小板BDNF与心理认知评分无关，但与疾病持续时间呈正相关。同样，SERT Bmax与HD体征或社会认知分数无关，而在对照组和患者中，KD与愤怒语音识别分数均呈负相关。这项初步研究表明，血小板BDNF和SERT并非II-HD期的社会心理缺陷的特殊原因，而延迟性轻度症状中较高的BDNF储存量则来自补偿机制。通过比较处于其他疾病阶段的患者，有必要进行补充检查。