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

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.

journal_name

Epigenomics

journal_title

Epigenomics

authors

Breton É,Légaré C,Overend G,Guay SP,Monckton D,Mathieu J,Gagnon C,Richer L,Gallais B,Bouchard L

doi

10.2217/epi-2020-0328

subject

Has Abstract

pub_date

2020-12-01 00:00:00

pages

2051-2064

issue

23

eissn

1750-1911

issn

1750-192X

journal_volume

12

pub_type

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