Rett Syndrome

Rett syndrome (RTT), typically caused by mutations in the X-linked MECP2 encoding Methyl-CpG-binding protein 2 (MeCP2), is a neurodevelopmental disorder that mainly affects females. RTT patients develop normally until 6–18 months of age but then show progressive loss of spoken language, loss of hand use, and the development of distinctive hand stereotypes. Clinical features include deceleration of brain growth, cognitive and motor abnormalities, autism, seizures, and respiratory dysfunction. MeCP2 is a DNA-binding protein that can both activate and repress transcription. MeCP2 also affects differential splicing. Investigating the biological targets of MeCP2 may help elucidate the mechanisms underlying RTT. Although MECP2 is widely expressed in human tissues, the disease is primarily attributed to the dysfunction of neurons. Previously, RTT is basically seen as a disease of synaptic plasticity . Evidence from studies in recent years has implicated glia, including astrocytes and microglia, in the pathophysiology of RTT .

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Last date updated on September, 2024