Category Archives: Science

Touch, Autism, and MECP2

flaskResearchers at Harvard University are suggesting a new theory of autism. They are raising the possibility that atypical neurological responses to touch can play an important role in developing symptoms of autism, and suggesting that abnormal levels of MeCP2 levels in cells that respond to touch can be critical to the development of symptoms of autism.

Experiments with a number of types of genetically engineered laboratory mice, they found autistic-like behavior developed in those without MECP2 activity in touch cells, but not if normal activity was present in touch cells but not in other cells in the body. There are a number of cautions in interpreting this finding and the associated theory, but there are also a number of general observations that make this theory enticing. Continue reading

Unity, Strength, Hope Conference

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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.

 

More Research on Cannabidiol & Seizures

flaskSeveral 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

Another Big Step Forward with CRISPR

NEW3“Using a previously undescribed approach involving single guide RNA, we successfully removed large genome rearrangement in primary cells of an individual with an X chromosome duplication including MECP2.”

Wojtal, D., Kemaladewi, D. U., Malam, Z., Abdullah, S., Wong, T. W., Hyatt, E., et al. (2016). Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders. American Journal of Human  Genetics, 98(1), 90-101.

2015 and 2016 have already been marked by some major breakthroughs in potential steps toward treatment of MECP2 Duplication Syndrome. This  report in the American Journal of Human Genetics definitely adds to collection. Continue reading

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

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

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.

Early Results of Epidiolex CBD Studies are Encouraging

CAUTION2 Some very encouraging news. Researchers at at New York University’s Langone Medical Center have reported results from clinical trials of Epidiolex, a pharmaceutical preparartion of CBD Cannabidiol. The study was structured to determine if the medication was safe, not to measure effectiveness as a an anticonvulsant. Nevertheless, 80% of the participants in the study decreases in seizure activity and on average. The average result for participants was a 54% reduction in seizures after 12 weeks of treatment. Additional clinical trials are still in progress. Continue reading

Encouraging News about NNZ-2566

CAUTION2 NEW3About two and half years ago, back in May 2013, this blog reported that an experimental drug NNZ-2566 might be useful for protecting the brains of individuals with MECP2 duplication syndrome. Now there has been encouraging news from clinical trials using this drug with individuals with Rett syndrome.

In 2013, there was more encouraging news suggesting that soldiers who sustained head injuries might have fewer lasting symptoms of traumatic brain injury. Continue reading