Kouter Katarina, Nikolac Perkovic Matea, Nedic Erjavec Gordana, Milos Tina, Tudor Lucija, Uzun Suzana, Mimica Ninoslav, Pivac Nela, Videtic Paska Alja
Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.
Laboratory for Molecular Neuropsychiatry, Division of Molecular Medicine, Ruder Boskovic Institute, 10000 Zagreb, Croatia.
Biomedicines. 2023 Jan 17;11(2):235. doi: 10.3390/biomedicines11020235.
Due to the increasing number of progressive dementias in the population, numerous studies are being conducted that seek to determine risk factors, biomarkers and pathological mechanisms that could help to differentiate between normal symptoms of aging, mild cognitive impairment (MCI) and dementia. The aim of this study was to investigate the possible association of levels of and gene expression and methylation in peripheral blood cells with the development of Alzheimer's disease (AD). Our results revealed higher expression levels of ( < 0.001) in MCI subjects compared to individuals diagnosed with AD. However, no difference in gene expression ( = 0.366) was detected. DNA methylation of the CpG islands and other sequences with potential effects on gene expression regulation revealed just one region (BDNF_9) in the gene ( = 0.078) with marginally lower levels of methylation in the AD compared to MCI subjects. Here, we show that the level of expression in the periphery is decreased in subjects with AD compared to individuals with MCI. The combined results from the gene expression analysis and DNA methylation analysis point to the potential of BDNF as a marker that could help distinguish between MCI and AD patients.
由于人群中进行性痴呆的数量不断增加，正在开展大量研究以确定有助于区分衰老正常症状、轻度认知障碍（MCI）和痴呆的风险因素、生物标志物及病理机制。本研究的目的是调查外周血细胞中 和 基因表达及甲基化水平与阿尔茨海默病（AD）发展之间的可能关联。我们的结果显示，与被诊断为AD的个体相比，MCI受试者中 的表达水平更高（ < 0.001）。然而，未检测到 基因表达存在差异（ = 0.366）。对CpG岛和其他对基因表达调控有潜在影响的序列进行DNA甲基化分析发现， 基因中只有一个区域（BDNF_9）（ = 0.078），与MCI受试者相比，AD患者的甲基化水平略低。在此，我们表明，与MCI个体相比，AD受试者外周血中 的表达水平降低。基因表达分析和DNA甲基化分析的综合结果表明，BDNF有潜力作为一种标志物，有助于区分MCI和AD患者。
