Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.

The occurrence of mutations of TDP-43, FUS, and C9ORF72 in amyotrophic lateral sclerosis (ALS) suggests pathogenic alterations to RNA metabolism and specifically to microRNA (miRNA) biology. Moreover, several ALS-related proteins impact stress granule dynamics affecting miRNA biogenesis and cellular...

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Detalles Bibliográficos
Autor: Matamala, José Manuel
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:Chile
OAI Identifier:oai:repositorio.anid.cl:10533/236607
Acceso en línea:https://hdl.handle.net/10533/236607
Access Level:acceso abierto
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dc.title.es_CL.fl_str_mv Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.
title Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.
spellingShingle Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.
Matamala, José Manuel
title_short Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.
title_full Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.
title_fullStr Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.
title_full_unstemmed Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.
title_sort Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.
dc.creator.none.fl_str_mv Matamala, José Manuel
author Matamala, José Manuel
author_facet Matamala, José Manuel
author_role author
description The occurrence of mutations of TDP-43, FUS, and C9ORF72 in amyotrophic lateral sclerosis (ALS) suggests pathogenic alterations to RNA metabolism and specifically to microRNA (miRNA) biology. Moreover, several ALS-related proteins impact stress granule dynamics affecting miRNA biogenesis and cellular miRNA levels. miRNAs are present in different biological fluids and have been proposed as potential biomarkers. Here we used next-generation sequencing to perform a comparative analysis of the expression profile of circulating miRNAs in the serum of 2 mutant superoxide dismutase 1 transgenic mice. Top hit candidates were then validated using quantitative real-time polymerase chain reaction, confirming significant changes for 6 miRNAs. In addition, one of these miRNAs was also altered in mutant TDP-43 mice. Then, we tested this set of miRNAs in the serum from sporadic ALS patients, observing a significant deregulation of hsa-miR-142-3p and hsa-miR-1249-3p. A negative correlation between the revised ALS functional rating scale and hsa-miR-142-3p levels was found. Bioinformatics analysis of the regulatory network governed by hsa-miR-142-3p identified TDP-43 and C9orf72 as possible targets, suggesting a connection with ALS pathogenesis. This study identifies miRNAs that are altered in ALS that may serve as potentials biomarkers.
publishDate 2018
dc.date.issued.es_CL.fl_str_mv 2018
dc.date.accessioned.none.fl_str_mv 2019-11-08T13:48:37Z
2022-07-07T21:55:08Z
dc.date.available.none.fl_str_mv 2019-11-08T13:48:37Z
2022-07-07T21:55:08Z
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spelling Matamala, José Manuel2018https://hdl.handle.net/10533/236607http://purl.org/coar/access_right/c_abf2Genome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.Matamala, José Manuel2019-11-08T13:48:37Z2022-07-07T21:55:08Z2019-11-08T13:48:37Z2022-07-07T21:55:08Z2018The occurrence of mutations of TDP-43, FUS, and C9ORF72 in amyotrophic lateral sclerosis (ALS) suggests pathogenic alterations to RNA metabolism and specifically to microRNA (miRNA) biology. Moreover, several ALS-related proteins impact stress granule dynamics affecting miRNA biogenesis and cellular miRNA levels. miRNAs are present in different biological fluids and have been proposed as potential biomarkers. Here we used next-generation sequencing to perform a comparative analysis of the expression profile of circulating miRNAs in the serum of 2 mutant superoxide dismutase 1 transgenic mice. Top hit candidates were then validated using quantitative real-time polymerase chain reaction, confirming significant changes for 6 miRNAs. In addition, one of these miRNAs was also altered in mutant TDP-43 mice. Then, we tested this set of miRNAs in the serum from sporadic ALS patients, observing a significant deregulation of hsa-miR-142-3p and hsa-miR-1249-3p. A negative correlation between the revised ALS functional rating scale and hsa-miR-142-3p levels was found. Bioinformatics analysis of the regulatory network governed by hsa-miR-142-3p identified TDP-43 and C9orf72 as possible targets, suggesting a connection with ALS pathogenesis. This study identifies miRNAs that are altered in ALS that may serve as potentials biomarkers.2115126521151265virtual::16901-1https://hdl.handle.net/10533/236607instname: Conicytreponame: Repositorio Digital RI2.0info:eu-repo/grantAgreement//21151265info:eu-repo/semantics/dataset/hdl.handle.net/10533/93477https://www.ncbi.nlm.nih.gov/pubmed/29458840info:eu-repo/semantics/openAccessGenome-wide circulating microRNA expression profiling reveals potential biomarkers for amyotrophic lateral sclerosis.Articuloinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttps://hdl.handle.net/10533/236607http://purl.org/coar/resource_type/c_2df8fbb165b1c099-a734-4bea-addc-58ef429247c8virtual::16901-165b1c099-a734-4bea-addc-58ef429247c8virtual::16901-1ORIGINAL(2018) Matamala JM. MicroRNA biomarkers ALS.pdfapplication/pdf3369373https://repositorio.anid.cl/bitstreams/1f7f1fc0-4848-4a49-b9b2-222da538a4ee/downloadcd4f96d2fd47cd965399796ec7d6b3ccMD51LICENSElicense.txttext/plain1779https://repositorio.anid.cl/bitstreams/84b78a44-f1ee-4dce-891a-a448573ccf42/download593a6e7305c66c56041a9f9e15a649c1MD52TEXT(2018) Matamala JM. MicroRNA biomarkers ALS.pdf.txtExtracted texttext/plain93309https://repositorio.anid.cl/bitstreams/9de1405f-d714-43c2-8865-8c8c0540c081/download32d1df439e91db45455a5eb665de2c97MD53THUMBNAIL(2018) Matamala JM. 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