Related Experiment Video
Updated: Aug 15, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
[From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1]
C E M de Die-Smulders1, C G Faber, H J M Smeets
1Academisch Ziekenhuis Maastricht, Postbus 5800, 6202 AZ Maastricht. christine.dedie@gen.unimaas.nl
Abstract:
Myotonic dystrophy type 1 is the most common muscular dystrophy in adults. Clinical features are variable and include myotonia, a slowly progressive muscle weakness and organ complications. Inheritance is autosomal dominant and characterised by anticipation, i.e. an earlier age of onset and more severe clinical course in subsequent generations, and exclusively maternal transmission of the most severe congenital type. The myotonic dystrophy type 1 mutation is an untranslated cytosine-thymine-guanine (CTG) expansion in the 'dystrophia myotonica-protein kinase' (DMPK) gene. The repeat expansion alters RNA processing, including alternative splicing of several genes and the expression of several transcription factors. Furthermore, reduced DMPK protein levels are present and it is proposed that the expanded CTG repeat has a local effect on genes in the myotonic dystrophy type 1 region by altering the chromatin structure.
Related Concept Videos
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
RNA Splicing
Chromatin Structure Regulates pre-mRNA Processing
The chromatin structure, especially...
Nuclear Export of mRNA

