Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Type 1 Diabetes Candidate Genes Linked to Pancreatic Islet Cell Inflammation and Beta-Cell Apoptosis

    Research output: Contribution to journalReviewpeer-review

  3. Alu Elements as Novel Regulators of Gene Expression in Type 1 Diabetes Susceptibility Genes?

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis: A Phase 2 Randomized Control Trial

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Deciphering the premature mortality in PIGA-CDG - An untold story

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Episodic hyperCKaemia may be a feature of α-methylacyl-coenzyme A racemase deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder mainly characterized by gradual muscle loss, weakness, and delayed relaxation after muscle contraction. It is caused by an expanded CTG repeat in the 3' UTR of DMPK, which is transcribed into a toxic gain-of-function mRNA that affects the splicing of a range of other genes. The repeat is unstable, with a bias towards expansions both in somatic cells and in the germline, which results in a tendency for earlier onset with each generation, as longer repeat lengths generally correlate with earlier onset. Previous studies have found hypermethylation in the regions flanking the repeat in congenital onset DM1 and in some patients with non-congenital DM1. We used pyrosequencing to investigate blood methylation levels in 68 patients with non-congenital DM1, compare the methylation levels between the blood and muscle, and assess whether methylation levels change over time in the blood. We found higher methylation levels in the blood of DM1 patients than in healthy controls and especially in the patients who had inherited the disease allele maternally. The methylation levels remained relatively stable over time and are a strong biomarker of the disease, as well as of the maternal inheritance of the disease.

Original languageEnglish
JournalGenes
Volume11
Issue number8
Pages (from-to)936
ISSN2073-4425
DOIs
Publication statusPublished - 13 Aug 2020

    Research areas

  • Biomarker, Blood, Epigenetics, Genetics, Inheritance, Muscle, Repeat, Trinucleotide

ID: 61066711