Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Puente-Alonso, Carles (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12))
Monckton, Darren G. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK)
Cumming, Sarah A. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK)
Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron)
Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Universitat Autònoma de Barcelona. Departament de Medicina

Data:	2020
Resum:	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.
Ajuts:	Ministerio de Economía y Competitividad PI15/01756 Ministerio de Economía y Competitividad PI15/00558 Instituto de Salud Carlos III PI18/00713 Ministerio de Economía y Competitividad CD14/00032 Ministerio de Economía y Competitividad CM16/00016
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Myotonic dystrophy type 1 ; Somatic instability ; CTG expansion ; Blood ; Muscle ; Skin
Publicat a:	Genes, Vol. 11 (november 2020) , ISSN 2073-4425

DOI: 10.3390/genes11111321
PMID: 33171734

8 p, 946.1 KB

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