Genetic and epigenetic mechanisms drive differences between CDM and DM1—a new study elucidates downstream signaling pathways that underlie their diverse phenotypes and represent putative therapy development targets for CDM.
Age and gender impact the onset and progression of DM2, but the pattern shows both similarities and differences from that of DM1.
It would be easy to conclude that insulin resistance and diabetes in myotonic dystrophy is a product of mis-splicing of INSR transcripts—but is that the full story?
Learn more about Dr. Ami Mankodi, principal investigator at the National Institutes of Health’s (NIH) National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, Maryland. Dr. Mankodi has been involved in research that has helped shape a fundamental biologic and molecular understanding of myotonic dystrophy (DM).
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.