评估额颞叶痴呆患者血液中微管相关蛋白tau（MAPT）甲基化水平与临床表型之间的关系
"Assessing relationship between blood MAPT methylation levels and clinical expression in Frontotemporal Dementia".
作者信息
Lombardi Gemma, Bagnoli Silvia, Ingannato Assunta, Finocchi Alice, Campagnini Silvia, Fostinelli Silvia, Longobardi Antonio, Ghidoni Roberta, Binetti Giuliano, Borroni Barbara, Rivolta Jasmine, Padiglioni Sonia, Bessi Valentina, Sorbi Sandro, Nacmias Benedetta
机构信息
Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, viale Pieraccini 6, Florence, 50139, Italy.
IRCCS Fondazione Don Carlo Gnocchi Onlus, Via Di Scandicci 269, Florence, 50143, Italy.
出版信息
Neurol Sci. 2025 Jun 16. doi: 10.1007/s10072-025-08292-7.
INTRODUCTION
Little is known regarding the relationship between methylation levels and Frontotemporal Dementia (FTD).
OBJECTIVE
The objective of the present study was to assess the relationship between blood MAPT methylation levels and clinical expression in FTD.
METHODS
This cross-sectional observational study was conducted including 54 Italian patients with different phenotypes: 22 behavioral variant FTD (bvFTD), 10 semantic variant (svPPA), 22 non-fluent variant (nfv) Primary Progressive Aphasia (PPA).
RESULTS
Results reveal a negative correlation between MAPT methylation levels determined by pyrosequencing analysis and the severity of disease in the FTD group and highlight an association between nfvPPA variant and intermediate-high levels of MAPT methylation, which persists also considering disease severity.
CONCLUSIONS
Our findings allow us to speculate that the degree of MAPT methylation in the blood, a test minimally invasive, cost-effective, and easily repeatable could be useful to differentiate FTD variants at onset and to confirm disease stage in symptomatic FTD patients. Further studies, also with a longitudinal design, are warranted to confirm our results.
引言
关于甲基化水平与额颞叶痴呆（FTD）之间的关系，我们所知甚少。
目的
本研究的目的是评估FTD患者血液中微管相关蛋白tau（MAPT）甲基化水平与临床表型之间的关系。
方法
这项横断面观察性研究纳入了54名具有不同表型的意大利患者：22例行为变异型FTD（bvFTD）、10例语义变异型（svPPA）、22例非流利变异型（nfv）原发性进行性失语（PPA）。
结果
焦磷酸测序分析确定的MAPT甲基化水平与FTD组疾病严重程度呈负相关，并突出了nfvPPA变异型与中高水平MAPT甲基化之间的关联，考虑到疾病严重程度，这种关联仍然存在。
结论
我们的研究结果使我们推测，血液中MAPT甲基化程度这一微创、经济有效且易于重复的检测方法，可能有助于在发病时鉴别FTD变异型，并在有症状的FTD患者中确认疾病阶段。还需要进一步的研究，包括纵向设计，以证实我们的结果。
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