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Current Genomics


ISSN (Print): 1389-2029
ISSN (Online): 1875-5488

Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?

Author(s): Alexandre Henriques and Jose-Luis Gonzalez De Aguilar

Volume 12, Issue 7, 2011

Page: [506 - 515] Pages: 10

DOI: 10.2174/138920211797904043

Price: $65


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.

Keywords: Amyotrophic lateral sclerosis, biomarker, pathogenesis, transcriptomics, gene expression, biopsy, paralysis, progressive muscle atrophy, myogenesis, biomarkers

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