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帕金森病:诊断和疾病进展的生物标志物。

Parkinson's Disease: Biomarkers for Diagnosis and Disease Progression.

机构信息

Department of Biotechnology, Yeungnam University, Gyeongsan 38541, Republic of Korea.

Department of Biotechnology and Genetic Engineering, Faculty of Biological Sciences, Islamic University, Kushtia 7003, Bangladesh.

出版信息

Int J Mol Sci. 2024 Nov 18;25(22):12379. doi: 10.3390/ijms252212379.

Abstract

Parkinson's disease (PD) is a progressive neurological disease that causes both motor and nonmotor symptoms. While our understanding of putative mechanisms has advanced significantly, it remains challenging to verify biomarkers with sufficient evidence for regular clinical use. Clinical symptoms are the primary basis for diagnosing the disease, which can be mild in the early stages and overlap with other neurological disorders. As a result, clinical testing and medical records are mostly relied upon for diagnosis, posing substantial challenges during both the initial diagnosis and the continuous disease monitoring. Recent biochemical, neuroimaging, and genetic biomarkers have helped us understand the pathophysiology of Parkinson's disease. This comprehensive study focuses on these biomarkers, which were chosen based on their relevance, methodological excellence, and contribution to the field. Biochemical biomarkers, including α-synuclein and glial fibrillary acidic protein (GFAP), can predict disease severity and progression. The dopaminergic system is widely used as a neuroimaging biomarker to diagnose PD. Numerous genes and genome wide association study (GWAS) sites have been related to the development of PD. Recent research on the SNCA gene and leucine-rich repeat protein kinase 2 (LRRK2) has shown promising results. By evaluating current studies, this review intends to uncover gaps in biomarker validation and use, while also highlighting promising improvements. It emphasizes the need for dependable and reproducible indicators in improving PD diagnosis and prognosis. These biomarkers may open up new avenues for early diagnosis, disease progression tracking, and the development of personalized treatment programs.

摘要

帕金森病(PD)是一种进行性神经疾病,可导致运动和非运动症状。虽然我们对假定机制的理解有了显著进展,但仍难以验证具有足够证据用于常规临床使用的生物标志物。临床症状是诊断疾病的主要依据,疾病在早期可能较为轻微,且与其他神经障碍相重叠。因此,临床检测和医疗记录主要用于诊断,这在初始诊断和持续疾病监测过程中都带来了巨大挑战。最近的生物化学、神经影像学和遗传生物标志物帮助我们了解了帕金森病的病理生理学。这项全面研究关注这些生物标志物,它们是根据相关性、方法学卓越性以及对该领域的贡献选择的。生物化学标志物,包括α-突触核蛋白和神经胶质纤维酸性蛋白(GFAP),可预测疾病的严重程度和进展。多巴胺能系统广泛用作诊断 PD 的神经影像学生物标志物。许多基因和全基因组关联研究(GWAS)位点与 PD 的发展有关。最近对 SNCA 基因和富亮氨酸重复蛋白激酶 2(LRRK2)的研究显示出了有前景的结果。通过评估当前的研究,本综述旨在揭示生物标志物验证和使用方面的差距,同时强调有希望的改进。它强调了在改善 PD 诊断和预后方面需要可靠和可重复的指标。这些生物标志物可能为早期诊断、疾病进展跟踪以及个性化治疗方案的开发开辟新途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1713/11594627/6b3c89b62a98/ijms-25-12379-g001.jpg

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