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Abstrakt
Rett Syndrome: Translate Medicine from Brain to Heart
Hansen Wang
Rett syndrome (RTT) is a neurodevelopmental disorder typically caused by mutations in methyl-CpG–binding protein 2 (MECP2). 26% of deaths in RTT are sudden and of unknown cause. A recent study found prolongation of the corrected QT interval (QTc), a risk factor for unstable fatal cardiac rhythm, in both RTT patients and animal models. It further demonstrated that cardiac abnormalities in RTT are secondary to abnormal nervous system control, which leads to increased persistent sodium current, suggesting that treatment of RTT would be more effective if it can target the increased persistent sodium current to prevent lethal cardiac arrhythmias. This surprising finding of brain to heart connection will have profound implications for therapies of neurological diseases which are in the situation similar to RTT.