Tag Archives: Rett syndrome

Seizures in Rett and MECP2 Duplication Syndrome

flaskResearch published in December 2016 provides a bit more information about seizure disorders in MECP2 duplication syndrome, particularly as they compare to seizure disorders in Rett syndrome. In general, this is a great piece of research as it describes the course of seizure disorders in Rett syndrome over a period of years. It emerged from the earlier natural history study. Unfortunately from the the perspective of MECP2 duplication syndrome, this publication is a bit disappointing, not because of any weakness in the sturdy or the reporting, but merely because  the number of participants with MECP2 duplication and the number of observations in the study was relatively small, which only permitted a very limited picture of this group. If there is a lesson for the MECP2 duplication syndrome study to be learned from this study, it may be the importance of participation in the current natural history study in order for researchers to be able to glean useful information.
Nevertheless this study did briefly report some general observations relevant to MECP2 duplication syndrome:

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Encouraging Research on Rett Syndrome

flaskResearchers at Cold Spring Harbor Laboratory have published encouraging results further demonstrating that at least some symptoms of Rett syndrome can be reversed in Rett lab mice. Previous research demonstrated that if MECP2 protein levels could be normalized, symptoms could be reduced or potentially eliminated. In this study, researchers identified a class of potential medicines that significantly reduced symptoms.

While this result is not directly applicable to MECP2 duplication syndrome, it does provide further support in principle for the line of research looking for classes of drugs to regulate MECP2 activity.

Request for info from Moms

Monica Coenraads is the Executive Director of the Rett Syndrome Research Trust. She feels that there might be something useful for understanding both Rett Syndrome and MECP2 Duplication Syndrome to be learned from women who carry the MECP2 duplication but do not have symptoms. Typically these would be moms or sisters of boys with MECP2 Duplication syndrome. She is looking for women or girls who have the duplication, are free of symptoms, have been tested for skewing (the selective inactivation of the X chromosomes with the duplication), and have been found to have normal skewing. If you happen to fit this profile, please consider contacting Monica. Continue reading

Dr. Zoghbi’s June 2009 NIH Lecture

Dr. Huda Zoghbi agve a great lecture on “Neurobiology of Rett syndrome and related disorders” in June 2009 for the National Institute of Health. parts of the one-hour lecture are technical but much of it in plain language. The lecture does a great job of describing how MECP2 Duplication Syndrome was discovered and some of the similarities and differences between MECP2 Duplication Syndrome. Its well worth watching. Continue reading

Is all autism related to the MECP2 Gene?

29 October 2009 – The relationship between MECP2 Duplication syndrome, Rett Syndrome, and autism appears to be a complex one.  Boys with MECP2 Duplication syndrome and girls with Rett syndrome clearly have autistic features associated with atypical MECP2 genetics. In some other cases of autism, atypical MECP2 genes also seem to be implicated. It has generally been believed, however, that most autism was not related to the MECP2 gene or its expression. Continue reading

The Strength of Families: Solving Rett Syndrome

This is a great 2003 “Research Channel” video from the Howard Hughes Medical Institute abiut the genetic basis for Rett syndrome. Although this is about Rett syndrome, not  MeCP2 Duplication Syndrome, Dr. Huda Zoghbi does a great job of explaining the role of the MeCP2 gene. It’s an hour long, but it is well worth watching.

Dr. Huda Zoghbi: The Strength of Families: Solving Rett Syndrome