A. Laurent et al., EXPRESSION OF MYOTONIC-DYSTROPHY PROTEIN-KINASE GENE DURING IN-VIVO AND IN-VITRO MOUSE MYOGENESIS, Cellular and molecular biology, 43(6), 1997, pp. 881-888
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disorde
r characterized by a great variability in its clinical manifestations.
The mutational basis underlying DM consists of an unstable (CTG), tri
nucleotide repeat in the 3' untranslated region of the myotonic dystro
phy protein kinase gene (DMPK). Conflicting results on DMPK gene expre
ssion in congenitally affected infants (CDM) have been published. More
over, the prominence of satellite cells seen in muscle of CDM infants
supports the notion that the congenital form is associated with an arr
est in muscle development and suggests a role for the DMPK gene during
differentiation and maturation of muscle. In order to clarify these f
indings, a comparative study of DMPK and myogenic factor mRNA levels w
as performed in developing mouse muscle tissues and cultured muscle ce
lls at different developmental stages. Results show that DMPK gene exp
ression is upregulated at a late stage of muscular development. This u
pregulation does not seem to depend on a given muscle specific bHLH fa
ctor.