Cargando…

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. We...

Descripción completa

Detalles Bibliográficos
Autores principales: Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Núñez-Manchón, Judit, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Alonso, Carles Puente, Lucia, Alejandro, Monckton, Darren G., Cumming, Sarah A., Pintos-Morell, Guillem, Coll-Cantí, Jaume, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales-Gadea, Gisela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695006/
https://www.ncbi.nlm.nih.gov/pubmed/33171734
http://dx.doi.org/10.3390/genes11111321
_version_ 1783615101158293504
author Ballester-Lopez, Alfonsina
Koehorst, Emma
Linares-Pardo, Ian
Núñez-Manchón, Judit
Almendrote, Miriam
Lucente, Giuseppe
Arbex, Andrea
Alonso, Carles Puente
Lucia, Alejandro
Monckton, Darren G.
Cumming, Sarah A.
Pintos-Morell, Guillem
Coll-Cantí, Jaume
Ramos-Fransi, Alba
Martínez-Piñeiro, Alicia
Nogales-Gadea, Gisela
author_facet Ballester-Lopez, Alfonsina
Koehorst, Emma
Linares-Pardo, Ian
Núñez-Manchón, Judit
Almendrote, Miriam
Lucente, Giuseppe
Arbex, Andrea
Alonso, Carles Puente
Lucia, Alejandro
Monckton, Darren G.
Cumming, Sarah A.
Pintos-Morell, Guillem
Coll-Cantí, Jaume
Ramos-Fransi, Alba
Martínez-Piñeiro, Alicia
Nogales-Gadea, Gisela
author_sort Ballester-Lopez, Alfonsina
collection PubMed
description Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. We studied the variability of the CTG expansion (progenitor, mode, and longest allele, respectively, and genetic instability) in three tissues (blood, muscle, and tissue) from eight patients with DM1. We also studied the association of genetic data with the patients’ clinical characteristics. Although genetic instability was confirmed in all the tissues that we studied, our results suggest that CTG expansion is larger in muscle and skin cells compared with peripheral blood leukocytes. While keeping in mind that more research is needed in larger cohorts, we have provided preliminary evidence suggesting that the estimated progenitor CTG size in muscle could be potentially used as an indicator of age of disease onset and muscle function impairment.
format Online
Article
Text
id pubmed-7695006
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-76950062020-11-28 Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1 Ballester-Lopez, Alfonsina Koehorst, Emma Linares-Pardo, Ian Núñez-Manchón, Judit Almendrote, Miriam Lucente, Giuseppe Arbex, Andrea Alonso, Carles Puente Lucia, Alejandro Monckton, Darren G. Cumming, Sarah A. Pintos-Morell, Guillem Coll-Cantí, Jaume Ramos-Fransi, Alba Martínez-Piñeiro, Alicia Nogales-Gadea, Gisela Genes (Basel) Brief Report Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. We studied the variability of the CTG expansion (progenitor, mode, and longest allele, respectively, and genetic instability) in three tissues (blood, muscle, and tissue) from eight patients with DM1. We also studied the association of genetic data with the patients’ clinical characteristics. Although genetic instability was confirmed in all the tissues that we studied, our results suggest that CTG expansion is larger in muscle and skin cells compared with peripheral blood leukocytes. While keeping in mind that more research is needed in larger cohorts, we have provided preliminary evidence suggesting that the estimated progenitor CTG size in muscle could be potentially used as an indicator of age of disease onset and muscle function impairment. MDPI 2020-11-07 /pmc/articles/PMC7695006/ /pubmed/33171734 http://dx.doi.org/10.3390/genes11111321 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
Ballester-Lopez, Alfonsina
Koehorst, Emma
Linares-Pardo, Ian
Núñez-Manchón, Judit
Almendrote, Miriam
Lucente, Giuseppe
Arbex, Andrea
Alonso, Carles Puente
Lucia, Alejandro
Monckton, Darren G.
Cumming, Sarah A.
Pintos-Morell, Guillem
Coll-Cantí, Jaume
Ramos-Fransi, Alba
Martínez-Piñeiro, Alicia
Nogales-Gadea, Gisela
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
title Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
title_full Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
title_fullStr Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
title_full_unstemmed Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
title_short Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
title_sort preliminary findings on ctg expansion determination in different tissues from patients with myotonic dystrophy type 1
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695006/
https://www.ncbi.nlm.nih.gov/pubmed/33171734
http://dx.doi.org/10.3390/genes11111321
work_keys_str_mv AT ballesterlopezalfonsina preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT koehorstemma preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT linarespardoian preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT nunezmanchonjudit preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT almendrotemiriam preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT lucentegiuseppe preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT arbexandrea preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT alonsocarlespuente preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT luciaalejandro preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT moncktondarreng preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT cummingsaraha preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT pintosmorellguillem preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT collcantijaume preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT ramosfransialba preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT martinezpineiroalicia preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1
AT nogalesgadeagisela preliminaryfindingsonctgexpansiondeterminationindifferenttissuesfrompatientswithmyotonicdystrophytype1