Tag Archives: Research

MECP2: Big picture getting bigger

QuestionMarkIn 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.

Ezeonwuka, C.D. and  Rastegar, M. (2014). MeCP2-Related Diseases and Animal Models Diseases  2(1), 45-70; doi:10.3390/diseases2010045

 

 

MECP2: A Big but Somewhat Blurry Picture

QuestionMarkOPINION: This week Nature published a very interesting and possibly groundbreaking study on schizophrenia. It doesn’t mention MECP2 but it does talk about the role of the pruning process in the brain. The way our brains develop is by creating a bunch of new connections and then trimming away the ones that are not needed or helpful. The article suggests that schizophrenia develops when the pruning process goes too far in some parts of the brain.  This is also consistent in some earlier reports that did suggest that certain defects in MECP2 were implicated in early onset schizophrenia.

Too much or too little MeCP2 activity has also been connected to a number of other conditions, such as Continue reading

Scotland’s STV on Reversal

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.

Late Onset Spasms (LOS)

eye1A few days ago, I posted a video (Drop Seizure Video) on this blog. It showed a girl having “drops” or what the video caption called “infantile spasms.” A large number of MECP2 Duplication Syndrome family members agreed that although their affected family members had many kinds of seizures, this looked a lot like what some of their drops look like. I definitely found this very interesting, since infantile spasms are generally described as starting before one year of age, and are very rare in older children or adults.

Thanks to the internet, I was able to find out more. I got some great leads from two colleagues in Kyoto Japan and Doha Qatar Continue reading

Zoghbi Lab Reversal Study

News icon25 November 2015 Today’s publication in Nature:

Yehezkel Sztainberg, Hong-mei Chen, John W. Swann, Shuang Hao, Bin Tang, Zhenyu Wu, Jianrong Tang, Ying-Wooi Wan, Zhandong Liu, Frank Rigo & Huda Y. Zoghbi (2015 November 25). Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature doi:10.1038/nature1615

Dr Zoghbi explains what they have accomplished in this video from the 401 project. Video created by Joseph Mendoza.

The  article in Nature is what families have long been waiting and hoping for. Continue reading

Rats, Mice, MECP2 Differences and Implications

mouseOn 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

MECP2 Duplication is Not So Rare as Once Thought

NEW3Although 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

Emerging Research on Treating Seizures with CBD (Cannabidiol)

starquestionSeizures 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

The Natural History Study

strFamilies of children and adults with MECP2 duplication syndrome should register with the Rett Consortium studying Rett Syndrome, MECP2 Duplication Syndrome, and Rett-Related Disorders. Registration is quick and easy… and you can REGISTER ON-LINE HERE.

More details are also available on that page, but here are some good reasons to register for this project:

  1. Signing up with the contact registry ensures that you will be kept informed of the latest developments.
  2. By participating in research that can help all affected children, families support research efforts that have the potential to help us all.
  3. Signing up for the contact registry does not obligate families to visit the research sites or participate in studies, you can determine whether or how you want to participate later,
  4. Registering with the project lets the researchers know that families care about their efforts and that research on individuals with MECP2 Duplication Syndrome is possible in spite of the small number of affected individuals.
  5. Registering helps researchers recognize where potential research participants are located and may make possible participation at new locations in the future.

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.