This is an old picture of my daughter Ananta from December 1972. June 30th this year marks her 45th birthday. When I took this picture, I didn’t know she only had 10 days left in her short life.
Ananta was diagnosed with Type 1A Glycogen Storage Disease, not MECP2 Duplication Syndrome like her brother Dave, but I think part of her story belongs here. Continue reading
New research from China suggests that MECP2 duplication syndrome may result in reduced pain responses. This will not come as a surprise to parents, health care professionals, or others with considerable experience with children and adults with MECP2 duplication syndrome. Many individuals with MECP2 duplication appear quite stoical when experiencing things that would cause considerable pain to other people.
This study by Zhang and colleagues came out a couple of weeks ago. It is an important topic and a good study. Since it is published in an open access journal anyone with access to the internet can read the study. Nevertheless, it is important to interpret and read this study with caution. Continue reading
I usually don’t use this blog to comment on research that is primarily oriented toward Rett syndrome. Others with more expertise related to Rett syndrome can do a much better job of that. A recent article on Rett syndrome mice, however, deserves a bit of comment here because of its possible implications for MECP2 duplication syndrome. In “Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli,” Cronk and colleagues raise the question of whether the role of the MECP2 gene in regulating the immune system could be central to most or all of the other problems seen in Rett syndrome. This possibility has been raised before both with Rett syndrome and MECP2 duplication syndrome, and this research provides some additional reason to take this hypothesis seriously. Continue reading
Some of the earliest research on MECP2 gene and protein focused on its role in the circadian cycle that regulates sleep and wakefulness . Now, researchers from Barcelona have taken that research a step further. They showed that the highest levels of MeCP2 protein occurred during the sleep phase and lowest during the awake phase. Continue reading
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
Gabel, H. W., Kinde, B., Stroud, H., Gilbert, C. S., Harmin, D. A., Kastan, N. R., et al. (2015). Disruption of DNA-methylation-dependent long gene repression in Rett syndrome. Nature. doi: 10.1038/nature14319
This new study may accelerate research on finding useful treatments for treating both Rett syndrome and MECP2 Duplication syndrome. It has been well-established that the MECP2 gene plays an important role in promoting the expression of some genes and inhibiting the expression of others. Now researchers have found that while it affects many genes, it has a greater impact on long gene expression. Continue reading
Bauer, M. et al. (2015). Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome, Journal of Clinical Immunology, DOI 10.1007/s10875-015-0129-5
Back in July 2012, a previous post on this blog discussed a German research project on pneumonia in MECP2 Duplication Syndrome ed by Michael Bauer. Some of your children may have participated in the study. Now, the results of this study have been published and they are quite interesting. Continue reading
Do the pieces of the puzzle fit?
Here are some known facts:
1. MECP2 Duplication Syndrome results in deficient interferon gamma that produces poor resistance to certain kinds of infection.
2. Individuals with MECP2 Duplication Syndrome often develop osteoporosis.
3. Individuals with MECP2 Duplication Syndrome are at risk for bone fractures.
4. Interferon Gamma plays a significant role in the formation and maintenance of bones.
SO, it seems likely that the low levels of interferon gamma might be responsible for low bone density and frequent fractures in individuals with MECP2 Duplication Syndrome. Continue reading
Today’s post in the Rett Syndrome Research Trust Blog provides an important update on the work of the MECP2 Consortium and its quest to determine the functions of the MECP2 protein. The Rett Syndrome Research Trust Blog is a great general resource for keeping up with the science working toward all the MECP2-related disorders.
CAGE-defined promoter regions of the genes implicated in Rett Syndrome BMC Genomics 2014, 15:1177 doi:10.1186/1471-2164-15-1177
This just published article may be an important step forward in understanding MECP2 Duplication Syndrome and other MECP2 related disorders. Genes don’t work in isolation; they interact with each other. Promoter genes are the genes that turn up the activity of other genes. This article adds to the understanding of which other genes may interact with MECP2. It may help to understand why some individuals with MECP2 Duplications are more severely affected than others.
It may also provide an early start to understanding how MECP2 Duplication Syndrome can be treated to reduce the overactivity of MECP2 and possibly reduce the severity of symptoms. It is a long way from producing practical help, but it is good to know that researchers are working on these basic issues.