Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?

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...

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Main Authors: Henriques, Alexandre, Gonzalez De Aguilar, Jose-Luis
Format: Online
Language:English
Published: Bentham Science Publishers 2011
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219845/
id pubmed-3219845
recordtype oai_dc
spelling pubmed-32198452012-05-01 Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis? Henriques, Alexandre Gonzalez De Aguilar, Jose-Luis Article 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. Bentham Science Publishers 2011-11 /pmc/articles/PMC3219845/ /pubmed/22547957 http://dx.doi.org/10.2174/138920211797904043 Text en ©2011 Bentham Science Publishers http://creativecommons.org/licenses/by/2.5/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.5/), which permits unrestrictive use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Henriques, Alexandre
Gonzalez De Aguilar, Jose-Luis
spellingShingle Henriques, Alexandre
Gonzalez De Aguilar, Jose-Luis
Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?
author_facet Henriques, Alexandre
Gonzalez De Aguilar, Jose-Luis
author_sort Henriques, Alexandre
title Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?
title_short Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?
title_full Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?
title_fullStr Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?
title_full_unstemmed Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis?
title_sort can transcriptomics cut the gordian knot of amyotrophic lateral sclerosis?
description 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.
publisher Bentham Science Publishers
publishDate 2011
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219845/
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