Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.
The syndrome has been diagnosed mostly in boys. The majority inherit the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children.
The MECP2 Duplication Syndrome may be quite prevalent. Preliminary studies suggest that 1% of cases of X-linked mental retardation may be due to this syndrome. The core phenotypes in boys include infantile hypotonia, mild dysmorphic features, developmental delay, absent to minimal speech, recurrent infections, progressive spasticity especially of the lower limbs, ataxia, autistic features, and seizures. Females with MECP2 duplication without X chromosome inactivation skewing have been reported and present similarly to boys.
MECP2 Duplication Syndrome Fund at RSRT
In an effort to immediately leverage RSRT’s deep knowledge base and well established global scientific networks the MECP2 Duplication Syndrome Fund at RSRT was created in late 2010. The Fund puts the intellectual and scientific resources of RSRT immediately to work for the MECP2 Duplication/Triplication Syndrome community.
The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research – not a single penny goes to overhead.
Funds raised to date: $881,000
Ongoing Fund projects
Is MECP2 Duplication/Triplication Syndrome Reversible?
Huda Zoghbi (Baylor College of Medicine)
$236,000 / 3 year project started in March 2012
The dramatic reversal of Rett symptoms in mice described by Adrian Bird in 2007 opened the field to questions that must now also be explored in the MECP2 Duplication Syndrome. We know that in Rett, restoration of proper MeCP2 function in mice only days away from death brought them back to health. Would elimination of the influence of excess MeCP2 in the Duplication Syndrome have a similarly dramatic effect? The first project funded by the Fund will answer this question. The lab of Huda Zoghbi at Baylor College of Medicine is conducting experiments to answer whether restoring proper amounts of Mecp2 in an animal model of the syndrome will reverse symptoms. If symptoms can be reversed is there a time period or can reversal also occur in adults, as in Rett?
A Forward Genetic Screen to Identify Druggable Modulators of MECP2 Levels
Huda Zoghbi (Baylor College of Medicine)
$733,289 / 4 year project started in February 2014 (Please note that the first three years have been committed to with funds of $536K. An additional $138K must be raised before we can commit to the project in its entirety.)
Dr. Zoghbi will screen compounds in search of any that can reduce levels of MeCP2 for the duplication/triplication syndrome. Any positive “hits” could form the foundation for drug discovery efforts.
Gene Therapy Approach to Treating MECP2 Duplication Syndrome
Kevin Foust, Ph.D.
Ohio State University
$39,340 / 1 year project started March 2013
The duplication syndrome is caused by having an extra copy (or two) of the MECP2 gene and sometimes other genes in the vicinity. In theory, reducing the amount of MeCP2 protein should improve the disease. Dr. Foust will use adeno-associated virus (AAV) to deliver RNA interference to lower the amount of MeCP2 protein. If successful the project will provide proof-of-concept data showing that MeCP2 reduction is a therapeutic option for patients.
We hope that the families affected by MECP2 Duplication Syndrome and those who know and care about them will be encouraged and energized by the ongoing research. Your participation and commitment are more than welcome: they are a necessity. It is your energy that will determine the speed and intensity of MECP2 Duplication Syndrome research.
The next $350,000 raised by the Fund will be used the ongoing screen in Dr. Zoghbi’s lab. Additional funds can be invested in new projects.
You can support the MECP2 Duplication Syndrome Fund through the following ways:
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Rett Syndrome Research Trust
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Your place of work may offer a matching gift program, which could more than double your donation. Please contact your Human Resource Department for details. Forms can either be mailed to us at 67 Under Cliff Road, Trumbull, CT 06611 or faxed to 203.445.9234.
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Van Wright Foundation Gala Dinner
February 21, 2014
ALL 4 ADAM
May 3, 2014
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MECP2 Duplication Tricky Tray
November 1, 2014
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