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神经退行性疾病。

Neurodegenerative diseases.

作者信息

Checkoway Harvey, Lundin Jessica I, Kelada Samir N

机构信息

University of Washington, Seattle, WA, USA.

出版信息

IARC Sci Publ. 2011(163):407-19.

Abstract

Degenerative diseases of the nervous system impose substantial medical and public health burdens on populations throughout the world. Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) are three of the major neurodegenerative diseases. The prevalence and incidence of these diseases rise dramatically with age; thus the number of cases is expected to increase for the foreseeable future as life spans in many countries continue to increase. Causal contributions from genetic and environmental factors are, with some exceptions, poorly understood. Nonetheless, molecular epidemiology approaches have proven valuable for improving disease diagnoses, characterizing disease prognostic factors, identifying high-risk genes for familial neurodegenerative diseases, investigating common genetic variants that may predict susceptibility for the non-familial forms of these diseases, and for quantifying environmental exposures. Incorporation of molecular techniques, including genomics, proteomics, and measurements of environmental toxicant body burdens into epidemiologic research, offer considerable promise for enhancing progress on characterizing pathogenesis mechanisms and identifying specific risk factors, especially for the non-familial forms of these diseases. In this chapter, brief overviews are provided of the epidemiologic features of PD, AD, and ALS, as well as illustrative examples in which molecular epidemiologic approaches have advanced knowledge on underlying disease mechanisms and risk factors that might lead to improved medical management and ultimately disease prevention. The chapter concludes with some recommendations for future molecular epidemiology research.

摘要

神经系统退行性疾病给全世界的人群带来了沉重的医学和公共卫生负担。阿尔茨海默病(AD)、帕金森病(PD)和肌萎缩侧索硬化症(ALS)是三种主要的神经退行性疾病。这些疾病的患病率和发病率随年龄急剧上升;因此,随着许多国家的预期寿命持续增加,在可预见的未来,病例数预计会增加。除了一些例外情况,人们对遗传和环境因素的因果作用了解甚少。尽管如此,分子流行病学方法已被证明在改善疾病诊断、确定疾病预后因素、识别家族性神经退行性疾病的高危基因、研究可能预测这些疾病非家族形式易感性的常见基因变异以及量化环境暴露方面具有重要价值。将包括基因组学、蛋白质组学以及环境毒物体内负荷测量在内的分子技术纳入流行病学研究,有望在阐明发病机制和识别特定风险因素方面取得更大进展,特别是对于这些疾病的非家族形式。在本章中,将简要概述帕金森病、阿尔茨海默病和肌萎缩侧索硬化症的流行病学特征,以及分子流行病学方法在推进对潜在疾病机制和可能改善医疗管理并最终预防疾病的风险因素的认识方面的实例。本章最后对未来分子流行病学研究提出了一些建议。

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