New Study on Role of MECP2

A new study from scientists from Harvard Medical School adds evidence to the role of the MECP2 gene as a modifier of cell’s reaction to environmental stimuli. In short, too much or too little MECP2 may result in the inability of the brain or other cells to adapt to the environment. This role has been emerging from various evidence over time, and the new study, published in Neuron, adds to this theory and provides evidence on how this happens. It may help to explain why many individuals with MECP2 Duplication or Rett syndrome like routine and show disinterest or avoidance when they encounter new situations or stimuli.

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2 responses to “New Study on Role of MECP2

  1. My grandson is 9 and recently diagnosed with MECP2 DUP Syndrome when he had GM seizure episodes in the spring. He is non verbal and developmentally delayed but has been walking since 2 years old. he is capable of doing small tasks that do not require short term concentration. His mother developed seizure disorder a few years ago in mid 20s. Otherwise she is normal… I wonder if this could be related ??? Both just had recent GM seizure breakthroughs .. My grandson was not on seizue meds yet so he will start on Kepra.Hope this does not change is wonderful personality.. very dosile and good natured.Welcome any comments?

    • There is a POSSIBLE relationship.There have been some other reports of girls and women who have the duplication (most moms of boys with the syndrome have the duplication, but not all). The numbers are too small to draw any firm conclusion on whether seizures are significantly more common among females with the duplication than in the general population, but there have been enough reports to suggest the possibility.

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