Toxic RNA-mediated mis-splicing and Repeat-Associated Non-AUG (RAN) translation proteins are impacted by free MBNL1 levels and contribute towards CNS pathogenesis in DM2.
Investigators at the University of California San Diego, the University of Florida, and the National University of Singapore have recently reported early research that potentially ‘repurposes’ gene editing technology for a set of RNA disorders—myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), a subset of Lou Gehrig’s disease (ALS) patients and Huntington’s disease. They have modified the Cas9 enzyme so it is targeted to toxic RNA, instead of the expanded DNA repeats in these diseases.
New fly models show a DM2 phenotype at least as severe as DM1 and may provide a platform for studies of genetic modifiers and candidate therapy screening in DM.
A recent review article makes the case that DM is a brain disease and that better understanding of and treatment strategies for the neurological consequences of DM are essential.
MDF staff recently attended the 2017 annual meeting of the American Academy of Neurology, in Boston, MA. Here are highlights from that meeting.