A new DM1 mouse model, with postnatal expression of expanded CUG repeat RNA in the brain, implicates reduced MBNL1 and MBNL2 in the staging of pathological and functional changes.
A potentially revolutionary technology may allow development of a drug for DM that can correct a patient’s DNA by selectively removing the expanded CTG and CCTG repeats in DM1 and DM2, respectively.
When Dr. Thurman Wheeler was a resident in neurology, he remembers a senior physician telling him that myotonic dystrophy would probably be one of the most difficult diseases to treat because it involves so many body systems.
Studies of AMPK/mTORC1 signaling in DM1 identify novel therapeutic targets for DM, and may offer an opportunity to repurpose approved drugs for both muscle and cognitive symptoms.
Biomarkers of various Contexts of Use are essential for drug development in DM—recent guidance documents and publications point to exciting new opportunities.
Longitudinal assessment of cognitive function in adult- and late-onset DM1 reveals a pattern of cognitive decline that can be modeled as an early-onset and acceleration of normal aging.
