In my last post, I listed a bunch of conditions that had been linked to MECP2 levels in one way or another and suggested “the big picture” about the many roles of MeCP2 may turn out to useful to understanding the best approaches to MECP2 Duplication. After posting it, I came across another paper, “MeCP2-Related Diseases and Animal Models” in the journal Diseases. I thought I should add this supplementary post for a few of reasons. First, this paper provides a very nice summary. Second, it adds a several other conditions to the list that covered in my last post, including rheumatoid arthritis, Huntington disease, and more varieties of cancer. Finally, it is a nice paper medically, and scientifically written but clear enough for a wider audience and it is available to the general public at no cost.
It is very early to speculate, but it is possible that finding a viable method of managing MeCP2 levels may become an important quest, not only for researchers looking for a way to help not only those with MECP2 duplication syndrome (a rare disorder), but for those searching for better ways to treat much more common disorders such as cancer and arthritis. This could massively increase interest and funding for MECP2-related research.
Great new video highlights the kids with MECP2 Duplication Syndrome and their families.
This great video was released on Christmas Day 2015. Thanks to Joe Mendoza and his colleagues for another great video… and of course, thanks to all the families who participated.
This STV news story with Jenny and Blake McMillan provides a personal perspective on the recent Nature publication of a groundbreaking study showing that MECP2 Duplication Syndrome can be reversed.
On first reading, differences between mice and rats in responses to missing aMECP2 gene didn’t seem to relevant to research on treating extra MECP2 gene activity in humans with MECP2 Duplication Syndrome. Later, it suddenly hit me that this could be very relevant and important. This research suggests that rats may be a better model for studying MECP2 Gene activity than mice that are currently being used in most of the studies. In a more general sense it also suggests that the role of the MECP2 gene may be species specific. Continue reading
Although MECP2 Duplication Syndrome (or Xq28 Duplication) is correctly identified as a rare condition, available research suggests that it is not as rare as we once thought. For example, Japanese researchers published a 2014 study in Human Genome Variation that described from results of 1,250 patients with intellectual disabilities who had not received specific diagnoses. The researchers performed advance genetic testing on these 1,250 patients and found probable genetic causes for 17% of these individuals. Many different genetic conditions were found among these 17% of patients. However, one condition was found more frequently than any other. That condition was Xq28 duplication with duplication of the MECP2 gene. This suggests that MECP2 Duplication Syndrome is not nearly as rare as once believed and that many cases continue to go diagnosed.
In the words of the researchers: Continue reading
Seizures present a major problem for individuals with MECP2 Duplication Syndrome. Most, if not all, will develop seizures at some point in their lives, and their seizures are typically extremely difficult to treat with conventional anticonvulsants. Some families have attempted to treat seizures with Cannabidiol (CBD) after widespread publicity has touted its apparent effectiveness in treating seizures in children and adults with uncontrolled epilepsy. Officially the verdict is still out on its effectiveness, but the good news is that their is now a flood of new scientific reviews and studies emerging and generally it is quite supportive of CBD. Listed here are a few recent publications and a brief summary of relevant findings.
Hussain, S. A., Zhou, R., Jacobson, C., Weng, J., Cheng, E., Lay, J., et al. (2015). Perceived efficacy of cannabidiol-enriched cannabis extracts for treatment of pediatric epilepsy: A potential role for infantile spasms and Lennox-Gastaut syndrome. Epilepsy & Behavior, 47, 138-141.
This was a survey of 117 parents Continue reading
Respiratory infections are a major challenge for individuals with MECP2 Duplication Syndrome. They are a major source of illness and are frequently life threatening. Most of the focus on studying these infections has focused on bacterial pneumonia. A recent study, however, looked at the effects of influenza A, a virus, on MECP2 Duplication laboratory mice. Continue reading
The following research study is being conducted at Vanderbilt University in Nashville, TN. Please consider this opportunity for your child to participate.
MECP2 Related Syndromes:
Auditory Assessment of Language and Learning
We will use the Peabody Picture Vocabulary Test (IV addition) to assess your child’s current language level. This test was chosen because it does not require a verbal response.
Auditory Processing* – Language and Learning
Your child will listen to several different “sets” of words and nonwords, and to a “set” of names (some familiar to them). This task only requires your child to sit and listen while wearing modified EEG electrodes. These electrodes are part of a cap that is placed on the child’s head. The cap uses salt water to transfer brainwaves and is very easy to place on the child’s head and remove.
We are recruiting, 15 patients with genetically confirmed RTT, 15 with genetically confirmed MECP2 duplication syndrome, and 30 typically developing children (for comparison). Participants will need to be between the ages of 4 and 12 years old.
*Because of the auditory tasks, we will conduct a quick hearing screen on each participant.
If you are interested or would like more information regarding our study, please contact: Dorita Jones, Study Coordinator 615-343-1961 firstname.lastname@example.org
Special thanks on behalf of families of individuals with MECP2 Duplication Syndrome to my colleagues Fred Orelove and Donna Gilles who have decided to assign 100% of the royalties of our forthcoming book, Educating Children with Severe and Multiple Disabilities to support research efforts to find new and better treatments. Royalties will be paid to the MECP2 Duplication Syndrome Fund at the Rett Syndrome Research Trust.
Fred and Donna have been leaders in the field of developmental disabilities for decades. Continue reading