Interplay between DYRK1A dosage and aneuploidy-induced neuropathology in Down syndrome - PubMed
8 hours ago
- #Down syndrome neuropathology
- #NLRP3 inflammasome activation
- #DYRK1A gene dosage
- Study investigates neuron reduction and apoptosis in Down syndrome using patient-derived iPSCs.
- Trisomies 13, 18, and 21 cause protein aggregate accumulation in neurons due to stress.
- DYRK1A overdosage in trisomy 21 astrocytes triggers NLRP3 inflammasome, releasing inflammatory cytokines.
- Combination of protein aggregates and inflammation enhances neuronal apoptosis in trisomy 21.
- Correcting DYRK1A copy number with chemical chaperone treatment rescues apoptotic neural death.