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
Epigenomicsjournal_title
Epigenomicsauthors
Breton É,Légaré C,Overend G,Guay SP,Monckton D,Mathieu J,Gagnon C,Richer L,Gallais B,Bouchard Ldoi
10.2217/epi-2020-0328subject
Has Abstractpub_date
2020-12-01 00:00:00pages
2051-2064issue
23eissn
1750-1911issn
1750-192Xjournal_volume
12pub_type
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