Plasma biomarkers reflecting the pathology of frontotemporal dementia would add significant value to clinical practice, to the design and implementation of treatment trials as well as our understanding of disease mechanisms. The aim of this study was to explore the levels of multiple plasma proteins in individuals from families with genetic frontotemporal dementia. Blood samples from 693 participants in the GENetic Frontotemporal Dementia Initiative study were analysed using a multiplexed antibody array targeting 158 proteins. We found 13 elevated proteins in symptomatic mutation carriers, when comparing plasma levels from people diagnosed with genetic FTD to healthy non-mutation controls and 10 proteins that were elevated compared to presymptomatic mutation carriers. We identified plasma proteins with altered levels in symptomatic mutation carriers compared to non-carrier controls as well as to presymptomatic mutation carriers. Further investigations are needed to elucidate their potential as fluid biomarkers of the disease process.

中文翻译：

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遗传 FTD 中血浆蛋白谱的改变——一项 GENFI 研究

反映额颞叶痴呆病理学的血浆生物标志物将为临床实践、治疗试验的设计和实施以及我们对疾病机制的理解增添重要价值。本研究的目的是探讨遗传性额颞叶痴呆家族个体的多种血浆蛋白水平。使用针对 158 种蛋白质的多重抗体阵列分析了 GENetic Frontotemporal Dementia Initiative 研究中 693 名参与者的血液样本。当将诊断为遗传性 FTD 的人与健康非突变对照者的血浆水平进行比较时，我们发现有症状的突变携带者中有 13 种蛋白质升高，与症状前突变携带者相比，有 10 种蛋白质升高。我们发现，与非携带者对照以及症状前突变携带者相比，有症状突变携带者的血浆蛋白水平发生了变化。需要进一步的研究来阐明它们作为疾病过程的液体生物标志物的潜力。