Myotonic dystrophy kinase is a component of neuromuscular junctions

摘要: The clinical manifestation of myotonic dystrophy (DM) is correlated to the extent expansion an unstable [CTG]n DNA motif. Recent studies have demonstrated that this trinucleotide motif forms part last, 3' untranslated exon a gene which potentially encodes multiple protein isoforms serine/threonine kinase (myotonic kinase, DM-PK). We report here on development antisera against synthetic DM-PK peptide antigens and their use in biochemical histochemical studies. Immunoreactive DM-kinase 53 kD present at low levels skeletal cardiac muscle extracts DM patients normal controls. Immunohistochemical staining revealed localised prominently sites neuromuscular myotendinous junctions (NMJs MTJs) human rodent muscles. Furthermore, very immunoreactive are sarcoplasm predominantly type I fibres various Strikingly, presence can also be for NMJs muscular tissues adult congenital cases DM, with no gross changes structural organisation. Our findings provide basis further characterisation role assembly processes or signal mediation synaptic ultimately understanding complex pathophysiology DM.