Pal Ramavati, Larsen Jan Petter, Moller Simon Geir
Department of Biological Sciences, St. John's University, New York, USA.
Norwegian Center for Movement Disorders, Stavanger University Hospital, Stavanger, Norway.
Int Rev Neurobiol. 2015;121:25-58. doi: 10.1016/bs.irn.2015.05.002. Epub 2015 Jun 19.
Neurodegenerative diseases are a major health concern worldwide. Diseases such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis, as well as many other diseases affecting the neuromuscular system, are a leading cause of disability in the aging population. Presymptomatic diagnosis of neurodegenerative disorders is challenging due to the lack of robust biomarkers. Likewise, the design of effective intervention strategies is limited because most neurodegenerative disorders are heterogeneous in nature. Reliable noninvasive biomarkers are therefore urgently needed to allow presymptomatic and accurate diagnosis, to track disease progression, to evaluate the effectiveness of new treatment regimens, and to ultimately design new therapeutic intervention strategies. Recent biological and technological advances within the field of proteomic promises to provide insight into global proteome changes in neurodegeneration, thus allowing increased understanding of molecular pathways leading to neuronal cell death and the identification of biomarkers. The combination of gel-based techniques and mass spectrometry permits large-scale identification of peptide sequences in biological samples as well as the characterization of posttranslational protein modifications. The application of comparative high-throughput proteomic analyses in animal models and human tissues will aid in the identification of both diagnostic and prognostic biomarkers and will provide a platform for a future personalized medicine approach in neurodegeneration.
神经退行性疾病是全球主要的健康问题。诸如阿尔茨海默病、帕金森病、亨廷顿病和肌萎缩侧索硬化症等疾病,以及许多其他影响神经肌肉系统的疾病,是老年人群残疾的主要原因。由于缺乏可靠的生物标志物,神经退行性疾病的症状前诊断具有挑战性。同样,由于大多数神经退行性疾病本质上具有异质性,有效干预策略的设计也受到限制。因此,迫切需要可靠的非侵入性生物标志物,以实现症状前的准确诊断、跟踪疾病进展、评估新治疗方案的有效性,并最终设计新的治疗干预策略。蛋白质组学领域最近的生物学和技术进展有望深入了解神经退行性变中的全球蛋白质组变化,从而增进对导致神经元细胞死亡的分子途径的理解,并识别生物标志物。基于凝胶的技术与质谱联用,能够大规模鉴定生物样品中的肽序列,并对蛋白质翻译后修饰进行表征。在动物模型和人体组织中应用比较高通量蛋白质组学分析,将有助于识别诊断和预后生物标志物,并为未来神经退行性疾病的个性化医疗方法提供一个平台。