Researchers 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
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
“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
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
A pre-publication manuscript of a recent study provides some more information on seizure disorders in MECP2 Duplication syndrome.
This research is very consistent with the parent survey results previously reported on this blog site on March 27, 2012. However, the study also includes information on brain electrical activity. Unfortunately, it suggests that seizures in individuals with MECP2 Duplication Syndrome are associated with different patterns of electrical activity in different individuals, which may mean no single approach to treatment is likely to be successful for all individuals with the syndrome. Continue reading
While there has been a lot of popular discussion of treating seizures with Cannabidiol, there have been few published studies of the results in children with seizure disorders. A study published in December 2013 in the journal Epilepsy and Behavior provides some encouraging information. While the study only surveyed a small number of participants and depended on parent perceptions rather than objectively measured data, the results were positive. Continue reading
Earlier this year a brief article was published on regression in MECP2 Duplication Syndrome in the Journal of Autism and Developmental Disorders.
Peters, S.U., Hundley, R.J., Wilson, A.K., Carvalho, C.M.B., Lupski, J.R., & Ramocki, M.B. (2013). Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome. Journal of Autism and Developmental Disorders, Published online, 2 March 2013. Continue reading
5-hydroxymethylcytosine (5hmC) is a substance found in many cells and particularly in the brain cells. Although there is much that remains unknown about it, it has been receiving a lot of attention from researchers because of its apparent pole in epigenetics. Epigenetics refers to the process by which gene expression is modified by non-genetic factors, such as external environmental influences. For example, our DNA may determine the likelihood that we we will develop high blood pressure later in life, but this can be modified by a lack of an adequate diet in childhood or even our during our mother’s pregnancy. Our DNA is not altered but some genes may be “turned up” and others “turned down” by our other factors. Exactly how these processes work is currently a major research area for many researchers, and some researchers believe that 5hmC may be an important piece of the puzzle. Continue reading
This entry starts a short series on bone density and risk of fractures in children and adults with MECP2 Duplication Syndrome. May be a good place to start is to say that bone density issues are not well recognized as a characteristic of MECP2 Duplication Syndrome. Nevertheless there are a number of reasons to suspect that bone density issues and fractures are special concerns for individuals with MECP2 Duplication Syndrome.
First, in May 2011, when families got together in Houston for the first MECP2 Duplication Syndrome Family Conference, Continue reading