Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2.

ABSTRACT:

Aims

Myotonic dystrophy types 1 and 2 (DM1 and DM2) are multisystem disorders caused by similar repeat expansion mutations, with similar yet distinct clinical features. Aberrant splicing of multiple effector genes, as well as dysregulation of transcription and translation, has been suggested to underlie different aspects of the complex phenotypes in DM1 and DM2. Ca(2+) plays a central role in both muscle contraction and control of gene expression, and recent expression profiling studies have indicated major perturbations of the Ca(2+) signalling pathways in DM. Here we have further investigated the expression of genes and proteins involved in Ca(2+) metabolism in DM patients, including Ca(2+) channels and Ca(2+) binding proteins.

Methods

We used patient muscle biopsies to an

SUBMITTER: Vihola A 

PROVIDER: S-EPMC3882430 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature