Tag Archives: Research

New Research on the Immune System in MECP2 Duplication Syndrome

clinImmBauer, 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

Begging for research! Interferon Gamma, bone formation & MECP2 Duplication

lightbulbDo 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

MECP2 Consortium Update – Breaking Down the Walls/ RSRT Blog

flaskToday’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

flaskCAGE-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.

Wonderful People

lightbulbBack 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

1st International MECP2 Duplication Syndrome Family Conference

Texas Children's Hospital26-27 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: [1] scientific and clinical presentations, [2] data collection for ongoing research, and [3] social events for families. Continue reading

Request for info from Moms

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

Dr. Zoghbi’s June 2009 NIH Lecture

Dr. Huda Zoghbi agve a great lecture on “Neurobiology of Rett syndrome and related disorders” in June 2009 for the National Institute of Health. parts of the one-hour lecture are technical but much of it in plain language. The lecture does a great job of describing how MECP2 Duplication Syndrome was discovered and some of the similarities and differences between MECP2 Duplication Syndrome. Its well worth watching. Continue reading

MECP2 and Stem Cell Aging

22 January 2010 – Philadelphia, PA, USA Researchers at the Sbarro Institute for Molecular Medicine and Cancer Research at Temple University in Philadelphia and the Human Health Foundation in Spoleto, Italy have reported on another potentially important role for the MECP2 gene. Their study, reported in the Journal of the Federation of American Societies for Experimental Biology, indicates that properly regulated MECP2 is important in the aging of stem cells, potentially impacting on the ability of stem cells to assist the body in repairing and replenishing other cells. Continue reading

MECP2 and Stress

8 November 2009 For some time, researchers at McGill Univeristy have been doing interesting research on stress in mice. Michael Meaney, Moische Szyf, and others at McGill have shown that stressed mother mice treat their babies differently and this stresses the babies, but the surprising thing is that the babies grow up to respond excessively to stress, as a result this second generation of mothers also become stressed mothers, whose behavior then stresses their babies and thus stress is transmitted from generation to generation. Continue reading