The MECP2 Gene Mutation
How One Genetic Error Cascades Into Disability
Rett syndrome is caused by mutations in the MECP2 gene, which encodes methyl-CpG-binding protein 2. This protein is critical for regulating gene expression in neurons - essentially it's a 'master control switch' for which genes get turned on and off in brain cells.
For the first 6-18 months of life, girls with Rett syndrome develop normally. Then the MECP2 mutation becomes apparent, and brain development begins to regress dramatically. The neurons that have been developing are losing their regulatory control. Synaptic connections are failing. Brain cells that were functioning are progressively dying or losing their connections.
Without MECP2 function, neurons cannot properly regulate essential proteins needed for cell survival, synaptic plasticity, and normal brain signaling. Neurotrophic factors - growth factors that keep neurons alive and functioning - become depleted. Cells that need these growth signals to survive begin to deteriorate.
"One genetic mutation creates a cascading failure of cellular communication across the developing brain."
This is where Trofinetide comes in. By acting as an <span class="text-foreground">IGF-1 tripeptide analog</span>, it mimics the signaling of insulin-like growth factor 1, providing the neurotropic support that MECP2-deficient neurons are starving for.