Correlation of molecular alterations with disease phenotype in myotonic dystrophy type 1

Takeaway

  • In myotonic dystrophy type 1 (DM1), cytosine-thymine-guanine (CTG) expansion defines the number of RNA foci per myoblast, the number of myoblasts that contain RNA foci, and the existence of cytoplasmic foci. Age of disease onset is inversely correlated with the number of cytoplasmic RNA foci.

Why this matters

    Most DM1 studies have used two-dimensional imaging, which has not allowed for identification of RNA foci or their location within cells, nor distribution and sequestration of the MBNL1 protein; thus, it has not been possible to determine molecular alterations associated with DM1 disease characteristics.