Can transcriptomics cut the gordian knot of amyotrophic lateral sclerosis?
Can transcriptomics cut the gordian knot of amyotrophic lateral sclerosis?
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DOI：
10.2174/138920211797904043
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发表时间：
2011-11
期刊：
影响因子：
2.6
通讯作者：
Gonzalez De Aguilar JL
中科院分区：
文献类型：
--
作者：
Henriques A;Gonzalez De Aguilar JL
肌萎缩性侧索硬化症（ALS）是一种成人发病的退行性疾病，其特征是上下运动神经元丧失，进行性肌肉萎缩，瘫痪和死亡，发生在诊断后的2-5年内。大多数病例零星出现，但有些是家族性的，通常以常染色体显性模式遗传。该病是多种致病机制共同作用的结果，不仅影响运动神经元，也影响非神经元邻近细胞。随着对这种有趣的细胞生物学的理解，该领域的重要挑战涉及设计有效的治疗方法和发现用于早期诊断和准确监测疾病进展的分子生物标志物。在过去的十年中，转录组学代表了解决这些问题的有希望的方法。在这篇综述中，我们回顾了大量研究的主要发现，这些研究分析了ALS患者活检或死后标本和相关动物模型的组织和细胞中的全局基因表达。这些研究证实了先前描述的疾病途径的含义，并研究了新基因在病理过程中的作用。此外，他们还发现了基因表达变化，可作为ALS诊断和随访的候选生物标志物。这些转录组学方法的局限性也将被讨论。
Amyotrophic lateral sclerosis (ALS) is an adult-onset degenerative disease characterized by the loss of upper and lower motor neurons, progressive muscle atrophy, paralysis and death, which occurs within 2-5 years of diagnosis. Most cases appear sporadically but some are familial, usually inherited in an autosomal dominant pattern. It is postulated that the disease results from the combination of multiple pathogenic mechanisms, which affect not only motor neurons but also non-neuronal neighboring cells. Together with the understanding of this intriguing cell biology, important challenges in the field concern the design of effective curative treatments and the discovery of molecular biomarkers for early diagnosis and accurate monitoring of disease progression. During the last decade, transcriptomics has represented a promising approach to address these questions. In this review, we revisit the major findings of the numerous studies that analyzed global gene expression in tissues and cells from biopsy or post-mortem specimens of ALS patients and related animal models. These studies corroborated the implication of previously described disease pathways, and investigated the role of new genes in the pathological process. In addition, they also identified gene expression changes that could be used as candidate biomarkers for the diagnosis and follow-up of ALS. The limitations of these transcriptomics approaches will be also discussed.
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影响因子：
9.3
作者：
Fiala M;Chattopadhay M;La Cava A;Tse E;Liu G;Lourenco E;Eskin A;Liu PT;Magpantay L;Tse S;Mahanian M;Weitzman R;Tong J;Nguyen C;Cho T;Koo P;Sayre J;Martinez-Maza O;Rosenthal MJ;Wiedau-Pazos M
通讯作者：
Wiedau-Pazos M
影响因子：
64.8
作者：
Cruts, Marc;Gijselinck, Ilse;Van Broeckhoven, Christine
通讯作者：
Van Broeckhoven, Christine
影响因子：
3.1
作者：
D'Arrigo, Antonello;Colavito, Davide;Leon, Alberta
通讯作者：
Leon, Alberta
DOI：
10.1073/pnas.0402026101
发表时间：
2004-07-27
影响因子：
11.1
作者：
Dupuis, L;Oudart, H;Loeffler, JP
通讯作者：
Loeffler, JP
影响因子：
3.7
作者：
Dupuis L;Gonzalez de Aguilar JL;Echaniz-Laguna A;Eschbach J;Rene F;Oudart H;Halter B;Huze C;Schaeffer L;Bouillaud F;Loeffler JP
通讯作者：
Loeffler JP