Epigenetics of Myotonic Dystrophies: A Minireview

Myotonic dystrophy type 1 and 2 (DM1 and DM2) are two multisystemic autosomal dominant disorders with clinical and genetic similarities. The prevailing paradigm for DMs is that they are mediated by an <i>in trans</i> toxic RNA mechanism, triggered by untranslated CTG and CCTG repeat expa...

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Autores principales:	Virginia Veronica Visconti, Federica Centofanti, Simona Fittipaldi, Elisa Macrì, Giuseppe Novelli, Annalisa Botta
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	myotonic dystrophies (DMs) epigenetics methylation chromatin remodeling microRNAs (miRNAs) Biology (General) QH301-705.5 Chemistry QD1-999
Acceso en línea:	https://doaj.org/article/7ff44c4a9e6f4d79894d04671a5e1458
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spelling	oai:doaj.org-article:7ff44c4a9e6f4d79894d04671a5e14582021-11-25T17:58:10ZEpigenetics of Myotonic Dystrophies: A Minireview10.3390/ijms2222125941422-00671661-6596https://doaj.org/article/7ff44c4a9e6f4d79894d04671a5e14582021-11-01T00:00:00Zhttps://www.mdpi.com/1422-0067/22/22/12594https://doaj.org/toc/1661-6596https://doaj.org/toc/1422-0067Myotonic dystrophy type 1 and 2 (DM1 and DM2) are two multisystemic autosomal dominant disorders with clinical and genetic similarities. The prevailing paradigm for DMs is that they are mediated by an <i>in trans</i> toxic RNA mechanism, triggered by untranslated CTG and CCTG repeat expansions in the <i>DMPK</i> and <i>CNBP</i> genes for DM1 and DM2, respectively. Nevertheless, increasing evidences suggest that epigenetics can also play a role in the pathogenesis of both diseases. In this review, we discuss the available information on epigenetic mechanisms that could contribute to the DMs outcome and progression. Changes in DNA cytosine methylation, chromatin remodeling and expression of regulatory noncoding RNAs are described, with the intent of depicting an epigenetic signature of DMs. Epigenetic biomarkers have a strong potential for clinical application since they could be used as targets for therapeutic interventions avoiding changes in DNA sequences. Moreover, understanding their clinical significance may serve as a diagnostic indicator in genetic counselling in order to improve genotype–phenotype correlations in DM patients.Virginia Veronica ViscontiFederica CentofantiSimona FittipaldiElisa MacrìGiuseppe NovelliAnnalisa BottaMDPI AGarticlemyotonic dystrophies (DMs)epigeneticsmethylationchromatin remodelingmicroRNAs (miRNAs)Biology (General)QH301-705.5ChemistryQD1-999ENInternational Journal of Molecular Sciences, Vol 22, Iss 12594, p 12594 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	myotonic dystrophies (DMs) epigenetics methylation chromatin remodeling microRNAs (miRNAs) Biology (General) QH301-705.5 Chemistry QD1-999
spellingShingle	myotonic dystrophies (DMs) epigenetics methylation chromatin remodeling microRNAs (miRNAs) Biology (General) QH301-705.5 Chemistry QD1-999 Virginia Veronica Visconti Federica Centofanti Simona Fittipaldi Elisa Macrì Giuseppe Novelli Annalisa Botta Epigenetics of Myotonic Dystrophies: A Minireview
description	Myotonic dystrophy type 1 and 2 (DM1 and DM2) are two multisystemic autosomal dominant disorders with clinical and genetic similarities. The prevailing paradigm for DMs is that they are mediated by an <i>in trans</i> toxic RNA mechanism, triggered by untranslated CTG and CCTG repeat expansions in the <i>DMPK</i> and <i>CNBP</i> genes for DM1 and DM2, respectively. Nevertheless, increasing evidences suggest that epigenetics can also play a role in the pathogenesis of both diseases. In this review, we discuss the available information on epigenetic mechanisms that could contribute to the DMs outcome and progression. Changes in DNA cytosine methylation, chromatin remodeling and expression of regulatory noncoding RNAs are described, with the intent of depicting an epigenetic signature of DMs. Epigenetic biomarkers have a strong potential for clinical application since they could be used as targets for therapeutic interventions avoiding changes in DNA sequences. Moreover, understanding their clinical significance may serve as a diagnostic indicator in genetic counselling in order to improve genotype–phenotype correlations in DM patients.
format	article
author	Virginia Veronica Visconti Federica Centofanti Simona Fittipaldi Elisa Macrì Giuseppe Novelli Annalisa Botta
author_facet	Virginia Veronica Visconti Federica Centofanti Simona Fittipaldi Elisa Macrì Giuseppe Novelli Annalisa Botta
author_sort	Virginia Veronica Visconti
title	Epigenetics of Myotonic Dystrophies: A Minireview
title_short	Epigenetics of Myotonic Dystrophies: A Minireview
title_full	Epigenetics of Myotonic Dystrophies: A Minireview
title_fullStr	Epigenetics of Myotonic Dystrophies: A Minireview
title_full_unstemmed	Epigenetics of Myotonic Dystrophies: A Minireview
title_sort	epigenetics of myotonic dystrophies: a minireview
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/7ff44c4a9e6f4d79894d04671a5e1458
work_keys_str_mv	AT virginiaveronicavisconti epigeneticsofmyotonicdystrophiesaminireview AT federicacentofanti epigeneticsofmyotonicdystrophiesaminireview AT simonafittipaldi epigeneticsofmyotonicdystrophiesaminireview AT elisamacri epigeneticsofmyotonicdystrophiesaminireview AT giuseppenovelli epigeneticsofmyotonicdystrophiesaminireview AT annalisabotta epigeneticsofmyotonicdystrophiesaminireview
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Epigenetics of Myotonic Dystrophies: A Minireview

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