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Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1)

The blood transcriptome was examined in relation to disease severity in type I myotonic dystrophy (DM1) patients who participated in the Observational Prolonged Trial In DM1 to Improve QoL- Standards (OPTIMISTIC) study. This sought to (a) ascertain if transcriptome changes were associated with incre...

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Autores principales: Nieuwenhuis, Sylvia, Widomska, Joanna, Blom, Paul, ‘t Hoen, Peter-Bram A. C., van Engelen, Baziel G. M., Glennon, Jeffrey C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8954763/
https://www.ncbi.nlm.nih.gov/pubmed/35328504
http://dx.doi.org/10.3390/ijms23063081
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author Nieuwenhuis, Sylvia
Widomska, Joanna
Blom, Paul
‘t Hoen, Peter-Bram A. C.
van Engelen, Baziel G. M.
Glennon, Jeffrey C.
author_facet Nieuwenhuis, Sylvia
Widomska, Joanna
Blom, Paul
‘t Hoen, Peter-Bram A. C.
van Engelen, Baziel G. M.
Glennon, Jeffrey C.
author_sort Nieuwenhuis, Sylvia
collection PubMed
description The blood transcriptome was examined in relation to disease severity in type I myotonic dystrophy (DM1) patients who participated in the Observational Prolonged Trial In DM1 to Improve QoL- Standards (OPTIMISTIC) study. This sought to (a) ascertain if transcriptome changes were associated with increasing disease severity, as measured by the muscle impairment rating scale (MIRS), and (b) establish if these changes in mRNA expression and associated biological pathways were also observed in the Dystrophia Myotonica Biomarker Discovery Initiative (DMBDI) microarray dataset in blood (with equivalent MIRS/DMPK repeat length). The changes in gene expression were compared using a number of complementary pathways, gene ontology and upstream regulator analyses, which suggested that symptom severity in DM1 was linked to transcriptomic alterations in innate and adaptive immunity associated with muscle-wasting. Future studies should explore the role of immunity in DM1 in more detail to assess its relevance to DM1.
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spelling pubmed-89547632022-03-26 Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1) Nieuwenhuis, Sylvia Widomska, Joanna Blom, Paul ‘t Hoen, Peter-Bram A. C. van Engelen, Baziel G. M. Glennon, Jeffrey C. Int J Mol Sci Article The blood transcriptome was examined in relation to disease severity in type I myotonic dystrophy (DM1) patients who participated in the Observational Prolonged Trial In DM1 to Improve QoL- Standards (OPTIMISTIC) study. This sought to (a) ascertain if transcriptome changes were associated with increasing disease severity, as measured by the muscle impairment rating scale (MIRS), and (b) establish if these changes in mRNA expression and associated biological pathways were also observed in the Dystrophia Myotonica Biomarker Discovery Initiative (DMBDI) microarray dataset in blood (with equivalent MIRS/DMPK repeat length). The changes in gene expression were compared using a number of complementary pathways, gene ontology and upstream regulator analyses, which suggested that symptom severity in DM1 was linked to transcriptomic alterations in innate and adaptive immunity associated with muscle-wasting. Future studies should explore the role of immunity in DM1 in more detail to assess its relevance to DM1. MDPI 2022-03-12 /pmc/articles/PMC8954763/ /pubmed/35328504 http://dx.doi.org/10.3390/ijms23063081 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Nieuwenhuis, Sylvia
Widomska, Joanna
Blom, Paul
‘t Hoen, Peter-Bram A. C.
van Engelen, Baziel G. M.
Glennon, Jeffrey C.
Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1)
title Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1)
title_full Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1)
title_fullStr Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1)
title_full_unstemmed Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1)
title_short Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1)
title_sort blood transcriptome profiling links immunity to disease severity in myotonic dystrophy type 1 (dm1)
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8954763/
https://www.ncbi.nlm.nih.gov/pubmed/35328504
http://dx.doi.org/10.3390/ijms23063081
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