帕金森病:从工作台到病床——药物基因组学方法在诊断和治疗方面的进展。

IF 3.8 4区 医学 Q2 GENETICS & HEREDITY
Suhas M, Sunil Kumar Kadiri
{"title":"帕金森病:从工作台到病床——药物基因组学方法在诊断和治疗方面的进展。","authors":"Suhas M, Sunil Kumar Kadiri","doi":"10.2174/0115665232342211250207064205","DOIUrl":null,"url":null,"abstract":"<p><p>This article provides a detailed look at Parkinson's disease (PD), a neurodegenerative ailment mostly known for movement difficulties such tremor, stiffness, and bradykinesia, which affects approximately 1% of persons over the age of 60. Although the precise cause of PD is still unknown, various factors such as pesticide exposure, genetics, and lifestyle choices like smoking and caffeine consumption are thought to play a role in its development. The presence of Lewy bodies characterizes the disease, the aggregation of alpha-synuclein, the loss of dopaminergic neurons in the substantia nigra, and disruptions in basal ganglia circuitry, resulting in both motor and nonmotor symptoms. This review is structured into several key sections, beginning with an exploration of the pathophysiological mechanisms behind PD, including how genetic mutations can lead to deficits in the Ubiquitin Proteasome System and mitochondrial function, which are linked to familial cases of the disease. Following this, the article explores diagnostic methods, such as the UK Brain Bank Criteria, advanced imaging techniques, olfactory testing, and innovative technologies like machine learning, all of which support early detection and accurate diagnosis of PD. Treatment strategies are also comprehensively reviewed, focusing on traditional pharmacological options like levodopa and dopamine agonists, as well as surgical interventions such as deep brain stimulation. Additionally, the review discusses promising new therapies, including immunotherapy aimed at neuroinflammation and gene therapy for disease modification. The impact of lifestyle changes such as exercise and diet on reducing PD risk and enhancing symptom management are also considered. In conclusion, this review highlights the complex nature of Parkinson's disease and underscores the need for a holistic approach that combines pharmacotherapy, advanced treatments, and lifestyle adjustments. By addressing both symptom management and disease modification, these strategies provide hope for improving quality of life.</p>","PeriodicalId":10798,"journal":{"name":"Current gene therapy","volume":" ","pages":""},"PeriodicalIF":3.8000,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Parkinson's Disease: From Bench to Bedside-Advancements in Diagnosis and Therapeutics using Pharmacogenomic Approach.\",\"authors\":\"Suhas M, Sunil Kumar Kadiri\",\"doi\":\"10.2174/0115665232342211250207064205\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>This article provides a detailed look at Parkinson's disease (PD), a neurodegenerative ailment mostly known for movement difficulties such tremor, stiffness, and bradykinesia, which affects approximately 1% of persons over the age of 60. Although the precise cause of PD is still unknown, various factors such as pesticide exposure, genetics, and lifestyle choices like smoking and caffeine consumption are thought to play a role in its development. The presence of Lewy bodies characterizes the disease, the aggregation of alpha-synuclein, the loss of dopaminergic neurons in the substantia nigra, and disruptions in basal ganglia circuitry, resulting in both motor and nonmotor symptoms. This review is structured into several key sections, beginning with an exploration of the pathophysiological mechanisms behind PD, including how genetic mutations can lead to deficits in the Ubiquitin Proteasome System and mitochondrial function, which are linked to familial cases of the disease. Following this, the article explores diagnostic methods, such as the UK Brain Bank Criteria, advanced imaging techniques, olfactory testing, and innovative technologies like machine learning, all of which support early detection and accurate diagnosis of PD. Treatment strategies are also comprehensively reviewed, focusing on traditional pharmacological options like levodopa and dopamine agonists, as well as surgical interventions such as deep brain stimulation. Additionally, the review discusses promising new therapies, including immunotherapy aimed at neuroinflammation and gene therapy for disease modification. The impact of lifestyle changes such as exercise and diet on reducing PD risk and enhancing symptom management are also considered. In conclusion, this review highlights the complex nature of Parkinson's disease and underscores the need for a holistic approach that combines pharmacotherapy, advanced treatments, and lifestyle adjustments. By addressing both symptom management and disease modification, these strategies provide hope for improving quality of life.</p>\",\"PeriodicalId\":10798,\"journal\":{\"name\":\"Current gene therapy\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.8000,\"publicationDate\":\"2025-02-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current gene therapy\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2174/0115665232342211250207064205\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current gene therapy","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2174/0115665232342211250207064205","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

这篇文章详细介绍了帕金森病(PD),这是一种神经退行性疾病,主要以震颤、僵硬和运动迟缓等运动困难而闻名,大约1%的60岁以上的人患有这种疾病。虽然帕金森病的确切病因尚不清楚,但农药暴露、基因、吸烟和咖啡因摄入等生活方式选择等多种因素被认为在其发展中起着重要作用。路易小体的存在是该病的特征,α -突触核蛋白聚集,黑质多巴胺能神经元丧失,基底神经节回路中断,导致运动和非运动症状。本综述分为几个关键部分,首先探讨PD背后的病理生理机制,包括基因突变如何导致泛素蛋白酶体系统和线粒体功能的缺陷,这与家族性PD病例有关。在此之后,本文探讨了诊断方法,如英国脑库标准,先进的成像技术,嗅觉测试和创新技术,如机器学习,所有这些都支持PD的早期发现和准确诊断。治疗策略也进行了全面审查,重点是传统的药物选择,如左旋多巴和多巴胺激动剂,以及手术干预,如深部脑刺激。此外,本综述还讨论了有前景的新疗法,包括针对神经炎症的免疫疗法和用于疾病修饰的基因疗法。生活方式的改变,如运动和饮食对降低PD风险和加强症状管理的影响也被考虑在内。总之,这篇综述强调了帕金森病的复杂性,强调了综合药物治疗、先进治疗和生活方式调整的整体方法的必要性。通过处理症状管理和疾病改变,这些策略为改善生活质量提供了希望。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Parkinson's Disease: From Bench to Bedside-Advancements in Diagnosis and Therapeutics using Pharmacogenomic Approach.

This article provides a detailed look at Parkinson's disease (PD), a neurodegenerative ailment mostly known for movement difficulties such tremor, stiffness, and bradykinesia, which affects approximately 1% of persons over the age of 60. Although the precise cause of PD is still unknown, various factors such as pesticide exposure, genetics, and lifestyle choices like smoking and caffeine consumption are thought to play a role in its development. The presence of Lewy bodies characterizes the disease, the aggregation of alpha-synuclein, the loss of dopaminergic neurons in the substantia nigra, and disruptions in basal ganglia circuitry, resulting in both motor and nonmotor symptoms. This review is structured into several key sections, beginning with an exploration of the pathophysiological mechanisms behind PD, including how genetic mutations can lead to deficits in the Ubiquitin Proteasome System and mitochondrial function, which are linked to familial cases of the disease. Following this, the article explores diagnostic methods, such as the UK Brain Bank Criteria, advanced imaging techniques, olfactory testing, and innovative technologies like machine learning, all of which support early detection and accurate diagnosis of PD. Treatment strategies are also comprehensively reviewed, focusing on traditional pharmacological options like levodopa and dopamine agonists, as well as surgical interventions such as deep brain stimulation. Additionally, the review discusses promising new therapies, including immunotherapy aimed at neuroinflammation and gene therapy for disease modification. The impact of lifestyle changes such as exercise and diet on reducing PD risk and enhancing symptom management are also considered. In conclusion, this review highlights the complex nature of Parkinson's disease and underscores the need for a holistic approach that combines pharmacotherapy, advanced treatments, and lifestyle adjustments. By addressing both symptom management and disease modification, these strategies provide hope for improving quality of life.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Current gene therapy
Current gene therapy 医学-遗传学
CiteScore
6.70
自引率
2.80%
发文量
46
期刊介绍: Current Gene Therapy is a bi-monthly peer-reviewed journal aimed at academic and industrial scientists with an interest in major topics concerning basic research and clinical applications of gene and cell therapy of diseases. Cell therapy manuscripts can also include application in diseases when cells have been genetically modified. Current Gene Therapy publishes full-length/mini reviews and original research on the latest developments in gene transfer and gene expression analysis, vector development, cellular genetic engineering, animal models and human clinical applications of gene and cell therapy for the treatment of diseases. Current Gene Therapy publishes reviews and original research containing experimental data on gene and cell therapy. The journal also includes manuscripts on technological advances, ethical and regulatory considerations of gene and cell therapy. Reviews should provide the reader with a comprehensive assessment of any area of experimental biology applied to molecular medicine that is not only of significance within a particular field of gene therapy and cell therapy but also of interest to investigators in other fields. Authors are encouraged to provide their own assessment and vision for future advances. Reviews are also welcome on late breaking discoveries on which substantial literature has not yet been amassed. Such reviews provide a forum for sharply focused topics of recent experimental investigations in gene therapy primarily to make these results accessible to both clinical and basic researchers. Manuscripts containing experimental data should be original data, not previously published.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信