Suppr超能文献

脑源性神经营养因子基因单核苷酸多态性rs6265与帕金森病临床特征的关联

[The association of single-nucleotide polymorphism rs6265 of the brain-derived neurotrophic factor gene with clinical features in Parkinson's disease].

作者信息

Nikitina M A, Bragina E Yu, Nazarenko M S, Alifirova V M

机构信息

Siberian State Medical University, Tomsk, Russia.

Scientific Research Institute of Medical Genetics - Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 2024;124(7):82-88. doi: 10.17116/jnevro202412407182.

Abstract

OBJECTIVE

To evaluate the frequency and severity of various clinical symptoms of Parkinson's disease (PD) depending on the rs6265 polymorphism.

MATERIAL AND METHODS

The study included 533 patients with PD. The stage of PD was assessed using the Hoehn and Yahr scale (1967), motor symptoms were evaluated with MDS-UPDRS. Assessment of non-motor symptoms (NMS) in PD was conducted using the Beck Depression Inventory II (BDI-II); the Hospital Anxiety and Depression Scale (HADS); the Apathy Scale; the Montreal Cognitive Assessment (MoCA test); the Questionnaire for Impulsive-Compulsive Disorders in PD -Rating Scale (QUIP-RS). Genotyping of the variant (rs6265) was performed using real-time PCR with TaqMan probes.

RESULTS

Most PD patients have a combination of NMS increasing as the disease progresses and is determined by molecular-genetic individual characteristics. There are significant differences in the severity of motor symptoms and NMS: individuals with the genotype showed significantly pronounced motor symptoms (<0.0001); emotional-affective symptoms (<0.0001); cognitive and impulsive behavioral disorders (<0.0001).

CONCLUSION

The rs6265 allele is associated with a wide range of NMS, increasing the risk of their development in patients with PD, thus playing the important role in the etiopathogenesis of this pathology.

摘要

目的

根据rs6265基因多态性评估帕金森病(PD)各种临床症状的发生频率和严重程度。

材料与方法

该研究纳入了533例PD患者。使用Hoehn和Yahr量表(1967年)评估PD分期,采用MDS-UPDRS评估运动症状。使用贝克抑郁量表第二版(BDI-II)、医院焦虑抑郁量表(HADS)、淡漠量表、蒙特利尔认知评估量表(MoCA测试)、帕金森病冲动控制障碍问卷-评定量表(QUIP-RS)对PD患者的非运动症状(NMS)进行评估。采用TaqMan探针实时PCR对变异体(rs6265)进行基因分型。

结果

大多数PD患者存在随着疾病进展而增加的NMS组合,且由分子遗传个体特征决定。运动症状和NMS的严重程度存在显著差异:具有该基因型的个体表现出明显更显著的运动症状(<0.0001);情绪情感症状(<0.0001);认知和冲动行为障碍(<0.0001)。

结论

rs6265等位基因与多种NMS相关,增加了PD患者发生这些症状的风险,因此在该疾病的病因发病机制中起重要作用。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验