Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital and collaborating institutions have gained new insights into the molecular changes leading to Rett syndrome, a severe neurological disorder caused by mutations in the MeCP2 gene encoding methyl-CpG binding protein 2 (MeCP2).
The team reports in the journal Neuron that loss of MeCP2 in adulthood causes immediate progressive dysregulation of hundreds of genes—some are activated while others are suppressed—and these changes occur well before any measurable deficiencies in neurological function.
The MeCP2 protein is most highly expressed in neurons— brain cells where, like an orchestra conductor, MeCP2 directs the expression of hundreds of genes. When mutations produce a nonfunctional MeCP2 protein, the conductor is no longer present to direct the harmonious expression of genes needed for normal brain function. The resulting discord in gene expression leads to Rett syndrome.
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