Preliminary findings on CTG expansion determination in different tissues from patients with myotonic dystrophy type 1

Ballester-Lopez, A. et al. (2020) Preliminary findings on CTG expansion determination in different tissues from patients with myotonic dystrophy type 1. Genes, 11(11), 1321. (doi: 10.3390/genes11111321) (PMID:33171734) (PMCID:PMC7695006)

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Abstract

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.

Item Type:Articles
Keywords:Myotonic dystrophy type 1, somatic instability, CTG expansion, blood, muscle, skin.
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Monckton, Professor Darren and Cumming, Dr Sarah
Authors: Ballester-Lopez, A., Koehorst, E., Linares-Pardo, I., Núñez-Manchón, J., Almendrote, M., Lucente, G., Arbex, A., Puente, C. P., Lucia, A., Monckton, D. G., Cumming, S. A., Pintos-Morell, G., Coll-Cantí, J., Ramos-Fransi, A., Martínez-Piñeiro, A., and Nogales-Gadea, G.
College/School:College of Medical Veterinary and Life Sciences > Institute of Molecular Cell and Systems Biology
Journal Name:Genes
Publisher:MDPI
ISSN:2073-4425
ISSN (Online):2073-4425
Published Online:07 November 2020
Copyright Holders:Copyright © 2020 The Authors
First Published:First published in Genes 11(11): 1321
Publisher Policy:Reproduced under a Creative Commons License

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