Mutant human embryonic stem cells identify defects in myotonic dystrophy

• Published in: Molecular therapy Vol. 19; no. 5; p. 819
• Main Author: Martinat, C
• Format: Journal Article
• Language: English
• Published: 01.05.2011
• ISSN: 1525-0016; 1525-0024
• DOI: 10.1016/j.stem.2011.02.004

New research published in Cell Stem Cell has identified an early developmental defect in the neuronal progeny of human embryonic stem cells derived from individuals affected by myotonic dystrophy type 1 (DM1). DM1 is the most common inherited muscular dystrophy in adults; patients suffer from muscle wasting and multiple defects in their central nervous systems. Although the DM1 mutation has been identified, the molecular mechanisms that underlie the disease remain poorly understood. In the new study, the workers made use of pluripotent stem cell lines derived from human embryos characterized during preimplantation genetic diagnosis as carrying the gene for DM1. Neural cells made from these cell lines exhibited lower expression of genes in the SLITRK family-as was observed in brain biopsy specimens from DM1 patients.