利用不同基因作为晚期阿尔茨海默病预测生物标志物的评价

IF 1.2 Q4 GENETICS & HEREDITY Global Medical Genetics Pub Date : 2022-03-01 DOI:10.1055/s-0042-1743570
S. Kenanoglu, Nefise Kandemir, H. Akalın, Nuriye Gokce, Mehmet F. Gol, M. Gultekin, E. Koseoglu, Meral Mirza, M. Dundar
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引用次数: 0

摘要

阿尔茨海默病(AD)是一种神经退行性疾病,在所有类型的痴呆症中,其特征是认知活动的破坏性下降,并严重影响生活质量。迟发性阿尔茨海默病(LOAD)发生在65岁以后,并且是偶发的。虽然衰老是LOAD的主要风险因素,但致病易感基因与疾病发病机制有关。在我们的研究中,我们根据基因PARP1、POLB、HTRA2、SLC1A2、HS1BP3和DRD3在LOAD患者中的表达水平进行了研究。在这个框架内,我们的目标是确定这些基因在疾病病理生理中的可能功能。我们研究了在LOAD早期诊断中使用这些基因作为生物标志物是否有助于治疗方案在临床中的应用。我们在研究中涉及了50个人,并收集了患者和对照组的外周血样本进行分子遗传分析。随后,从外周血样本中提取RNA,并使用定性逆转录聚合酶链反应进行表达分析。用适当的统计方法对所得结果进行了评价。我们的研究结果表明,在HTRA2、DRD3、HS1BP3和POLB基因方面,患者和对照组之间没有差异。SLC1A2和PARP1基因在患者组的表达水平明显低于对照组。综上所述,我们推测PARP1和SLC1A2基因可以作为LOAD的分子生物标志物。
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Evaluation of Utilizing the Distinct Genes as Predictive Biomarkers in Late-Onset Alzheimer's Disease
Alzheimer's disease (AD) is a neurodegenerative disease that is characterized by a devastating decline in cognitive activities among all types of dementia, and it severely affects the quality of life. Late-onset AD (LOAD) occurs after the age of 65 years and develops sporadically. Although aging comes first along the main risk factors underlying LOAD, disease-causing susceptibility genes have been associated with disease pathogenesis. In our study, we included the genes PARP1 , POLB , HTRA2 , SLC1A2 , HS1BP3 , and DRD3 to be investigated in LOAD patients based on their expression levels. Within this framework, we aimed to determine the possible functions of these genes in the pathophysiology of the disease. We investigated whether the utilization of these genes as biomarkers in the early diagnosis of LOAD may help the treatment scheme to be applied in the clinic. We involved 50 individuals in the study and collected peripheral blood samples from the patients and control groups for molecular genetic analysis. Subsequently, RNA was extracted from the peripheral blood samples, and expression analyzes were performed using qualitative reverse transcription polymerase chain reaction. The results obtained were evaluated by using proper statistical methods. Our results demonstrated that there was no difference between patient and control groups in terms of HTRA2 , DRD3 , HS1BP3 , and POLB genes. The expression levels of the SLC1A2 and PARP1 genes were significantly lower in the patient group compared with the control group. In conclusion, we presume that the PARP1 and SLC1A2 genes can be utilized as molecular biomarkers for LOAD.
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来源期刊
Global Medical Genetics
Global Medical Genetics GENETICS & HEREDITY-
自引率
11.80%
发文量
30
审稿时长
14 weeks
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