Decreased expression of DMPK: Correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1

Sergio Salvatori, M. Fanin, C. P. Trevisan, S. Furlan, S. Reddy, J. I. Nagy, C. Angelini

Research output: Contribution to journalArticlepeer-review

Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a trinucleotide repeatexpansion, cytosine-thymine-guanine (CTG)n, in the 3′ untranslated region of a gene encoding the myotonic dystrophy protein kinase (DMPK). To correlate CTG expansion and protein expression, we studied muscle specimens from 16 adult DM1 patients using three anti-DMPK antibodies for immunoblotting. We estimated the amount of the full-length DMPK (85 kDa) in muscle biopsies from normal controls and from DM1 patients carrying different (CTG)n expansions. We found that DMPK concentration was decreased to about 50% in DM patients' muscles; the protein decrease did not seem correlated with the CTG repeat length. However, the fibre type composition in skeletal muscle seemed somehow to affect DMPK decrease, as the lowest level of the enzyme was found in patients with the lowest content of type 1 fibre.

Original languageEnglish
Pages (from-to)235-242
Number of pages8
JournalNeurological Sciences
Volume26
Issue number4
DOIs
Publication statusPublished - Oct 2005

Keywords

  • Human skeletal muscle
  • Myotonic dystrophy
  • Protein kinase
  • Trinucleotide repeat

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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