This is a reminder about the upcoming conference on MECP2 related disorders in June. This event is really two conferences in one: (1) A family conference for those whose family members are affected by Rett syndrome, MECP2 duplication syndrome, FOXG1 syndrome, CDKL5 disorder, or other MECP2 related syndromes., and (2) a concurrent professional and research symposium on the same disorders. The conference will take place at the Eaglewood Resort in Illinois, June 22-24, 2016.
A recent study looks at the effects of the MeCP2 protein levels on adult brains. Although this study looked at blocking MeCP2 [similar to Rett syndrome and the opposite of MECP2 duplication syndrome], the fact that it showed different kinds of responses depending on the developmental maturity of the lab mice, suggests that the most critical role of the MeCP2 protein may be in the function of the adult brain.
This finding is consistent with Continue reading
Several new studies provide encouraging results about the use of cannabidiol (CBD) oil to treat seizure disorders that are not controlled by other medications. Research also, however, points toward important cautions.
Already in 2016,at least nine studies have been published on CBD and seizures. Two 2016 studies, one from Israel (Tzadok et al.,, 2016) and one the United States (Devinsky et al., 2016) are generally reporting particularly encouraging results. This is not to say the others are negative, just less relevant. The two discussed here are important because they include some results Continue reading
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.
OPINION: 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
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.
A 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
25 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
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