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| Pàgina inicial > Articles > Articles publicats > The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1 |
(Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Hospital Universitari Vall d'Hebron) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (National Rehabilitation Institute (Mèxic)) (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) (University of Glasgow) (University of Glasgow) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)| Data: | 2020 |
| Resum: | The number of cytosine-thymine-guanine (CTG) repeats ('CTG expansion size') in the 3'untranslated region (UTR) region of the dystrophia myotonica -protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. However, accurate determination of CTG expansion size is challenging due to its characteristic instability. We compared five different approaches (heat pulse extension polymerase chain reaction [PCR], long PCR-Southern blot [with three different primers sets-1, 2 and 3] and small pool [SP]-PCR) to estimate CTG expansion size in the progenitor allele as well as the most abundant CTG expansion size, in 15 patients with DM1. Our results indicated variability between the methods (although we found no overall differences between long PCR 1 and 2 and SP-PCR, respectively). While keeping in mind the limited sample size of our patient cohort, SP-PCR appeared as the most suitable technique, with an inverse significant correlation found between CTG expansion size of the progenitor allele, as determined by this method, and age of disease onset (r = −0. 734, p = 0. 016). Yet, in light of the variability of the results obtained with the different methods, we propose that an international agreement is needed to determine which is the most suitable method for assessing CTG expansion size in DM1. |
| Ajuts: | Ministerio de Economía y Competitividad PI15/01756 Instituto de Salud Carlos III P18/00713 Agència de Gestió d'Ajuts Universitaris i de Recerca SGR1520 European Commission. Horizon 2020 713673 Ministerio de Economía y Competitividad CP14/00032 Agència de Gestió d'Ajuts Universitaris i de Recerca SGR 1520 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: | CTG expansion size ; Myotonic dystrophy type 1 ; Long PCR ; Small pool-PCR ; Age of disease onset |
| Publicat a: | Genes, Vol. 11 (july 2020) , ISSN 2073-4425 |
