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.
Back in 2000, my colleague Kate Scorgie and I published some research on how having a child with significant disabilities changed the lives of parents in some positive ways. A lot had already been written about the stress, sorrow, and other negative aspects of parenting a child with a disability, but we felt there were also some very positive parts of the experience that needed to be acknowledged. We found that children with disabilities transformed their parents’ lives in some positive ways.
Since then there has been a lot of discussion and analysis of this process of transformation. Some have suggested that these positive changes in parents lives are not real, but a rationalization to cope with the negative aspects of the experience. This month, some of my colleagues and I published a study that attempts to test whether the beneficial aspects are real or not, and the results confirm the benefits reported 14 years earlier. The results are summarized below: Continue reading
26-27 May 2011 The first 1st International MECP2 Duplication Syndrome Family Conference in Houston, Texas was attended by approximately 200 people representing 45 families. There were three major components to the conference:  scientific and clinical presentations,  data collection for ongoing research, and  social events for families. Continue reading
Monica Coenraads is the Executive Director of the Rett Syndrome Research Trust. She feels that there might be something useful for understanding both Rett Syndrome and MECP2 Duplication Syndrome to be learned from women who carry the MECP2 duplication but do not have symptoms. Typically these would be moms or sisters of boys with MECP2 Duplication syndrome. She is looking for women or girls who have the duplication, are free of symptoms, have been tested for skewing (the selective inactivation of the X chromosomes with the duplication), and have been found to have normal skewing. If you happen to fit this profile, please consider contacting Monica. Continue reading