DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1

Breton, É., Légaré, C., Overend, G. , Guay, S.-P., Monckton, D. , Mathieu, J., Gagnon, C., Richer, L., Gallais, B. and Bouchard, L. (2020) DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1. Epigenomics, 12(23), pp. 2051-2064. (doi: 10.2217/epi-2020-0328) (PMID:33301350)

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Abstract

Aim: Myotonic dystrophy type 1 (DM1) is caused by an unstable trinucleotide (CTG) expansion at the DMPK gene locus. Cognitive dysfunctions are often observed in the condition. We investigated the association between DMPK blood DNA methylation (DNAm) and cognitive functions in DM1, considering expansion length and variant repeats (VRs). Method: Data were obtained from 115 adult-onset DM1 patients. Molecular analyses consisted of pyrosequencing, small pool PCR and Southern blot hybridization. Cognitive functions were assessed by validated neuropsychological tests. Results: For patients without VRs (n = 103), blood DNAm at baseline independently contributed to predict cognitive functions 9 years later. Patients with VRs (n = 12) had different DNAm and cognitive profiles. Conclusion: DNAm allows to better understand DM1-related cognitive dysfunction etiology.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Overend, Dr Gayle and Monckton, Professor Darren
Authors: Breton, É., Légaré, C., Overend, G., Guay, S.-P., Monckton, D., Mathieu, J., Gagnon, C., Richer, L., Gallais, B., and Bouchard, L.
College/School:College of Medical Veterinary and Life Sciences > Institute of Molecular Cell and Systems Biology
Journal Name:Epigenomics
Publisher:Future Medicine Ltd.
ISSN:1750-1911
ISSN (Online):1750-192X
Published Online:10 December 2020

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