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Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 ( MECP2 ) gene. Deficient K + -Cl — co-transporter 2 ( KCC2 ) expression is suggested to play a key role in the neurodevelopmental delay in RTT patients’ neuronal networks. KCC2 is a major player in neuronal maturation by supporting the GABAergic switch, through the regulation of neuronal chlorine homeostasis. Previous studies suggest that MeCP2 mutations lead to changed  KCC2  expression levels, thereby causing a disturbance in excitation/inhibition (E/I) balance. To investigate this, we performed protein and RNA expression analysis on post mortem brain tissue from RTT patients and healthy controls. We showed that  KCC2  expression, in particular the  KCC2a  isoform, is relatively decreased in RTT patients. The expression of Na + -K + -Cl −  co-transporter 1 ( NKCC1 ), responsible for the inward transport of chlorine, is not affected, leading to a reduced  KCC2 / NKCC1  ratio in RTT brains. Our report confirms  KCC2  expression alterations in RTT patients in human brain tissue, which is in line with other studies, suggesting affected E/I balance could underlie neurodevelopmental defects in RTT patients.

KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients