Who Benefits from Research on MECP2 Duplication Syndrome?

The apparent answer to this question would be that a thousand or two boys and about a hundred girls that have been currently diagnosed with MECP2 Duplication Syndrome are the beneficiaries of research on MECP2 Duplication Syndrome. Of course, we DO hope that this small group will benefit from the research, but there are lot more potential beneficiaries.

As mentioned in the previous post on this blog there are many thousands more who have this syndrome and remain undiagnosed, but hopefully will be properly diagnosed in the near future. They also stand to benefit from this research. Similarly, about 1500 new infants will be born each year with MECP2 Duplication Syndrome, and they too can benefit from research.

Of course, the families, caregivers and friends of all these individuals also benefit indirectly from any progress in treating these individuals. As one of these parents, I can tell you personally how much helping our son would make my life better.

Partially overlapping with the family group is a large group of individuals who carry the MECP2 duplication, most of whom are unaware that they are carriers. They may also benefit from this research.

Much of the current and proposed research on MECP2 duplication syndrome actually studies the role of the MECP2 gene and the MECP2 protein in human development and  health. As a result, findings from these studies have the potential to be applied to many other conditions. The most obvious of these is Rett syndrome, which is caused by MECP2 gene dysfunction. Research suggests, however, that MECP2 may also play an important role in other disorders, such as Angelman syndrome, schizophrenia, anxiety disorders, Fragile-X, and autism. This suggests a much larger group of potential future beneficiaries from research on the MECP2.

Beyond these, however, there is a much larger potential group of beneficiaries. Over the last decade, it has become clear that the MECP2 gene plays a critical role in regulating epigenetic processes. Epigenetics refers to the processes by which genes can be turned on and off in response to environmental or internal conditions.  While early work on epigenetics began in the 1970s and the term epigenetics was first defined in the 1990s, the field has exploded in the last decade as scientists have recognized the importance of these processes to human health and development and acknowledged how little we really know about them. Scientists now believe that may present a whole new avenue for improving human health and preventing  or treating diseases such as cancer and autoimmune disorders, such as lupus.

One other thing that we do know know about epigenetics is that the MECP2 gene plays a critical role in epigenetic processes, turning many other genes off or on. So that research that may seem to have benefit for a small group of boys and a smaller group of girls with MECP2 duplication syndrome has the potential to help every one of us in the future. So, we can look at research on MECP2 Duplication as something that science and society as a whole undertakes to help a small group of individuals affected directly as the syndrome, but we can also  look at this small group of individuals directly affected by the syndrome as a valuable asset that can play a key role in helping science understand critical processes that can lead to better lives for all of us in the futire.

Here are a few examples of things that experts  have said about MECP2 and it’s importance:

Maria Chahrour, Sung Yun Jung, Chad Shaw, Xiaobo Zhou, Stephen T. C. Wong, Jun Qin and Huda Y. Zoghbi MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription, Science 30 May 2008:  Vol. 320 no. 5880 pp. 1224-1229

MeCP2 dysfunction induced changes in the expression levels of thousands of genes, but unexpectedly the majority of genes (∼85%) appeared to be activated by MeCP2….These studies suggest that MeCP2 regulates the expression of a wide range of genes in the hypothalamus and that it can function as both an activator and a repressor of transcription.

Huda Zoghbi quoted in ScienceDaily (May 29, 2008)

“We know that the MeCP2 protein is important for orchestrating gene expression in neurons,

Elisa S. Na and Lisa M. Monteggia The role of MeCP2 in CNS development and function. Horm Behav. 2011 March; 59(3): 364–368

Rett syndrome is a neurodevelopmental disorder that is a direct consequence of functional mutations in the methyl-CpG-binding protein-2 (MeCP2) gene, which has focused attention on epigenetic mechanisms in neurons. MeCP2 is widely believed to be a transcriptional repressor although it may have additional functions in the CNS. Genetic mouse models that compromise MeCP2 function demonstrate that homeostatic regulation of MeCP2 is necessary for normal CNS functioning. Recent work has also demonstrated that MeCP2 plays an important role in mediating synaptic transmission in the CNS in particular, spontaneous neurotransmission and short-term synaptic plasticity. This review will discuss the role of MeCP2 in CNS development and function, as well as a potential important role for MeCP2 and epigenetic processes involved in mediating transcriptional repression in Rett syndrome.

Project 1. Epigenetics in Human Disease; Molecular Mechanisms of Rett syndrome. http://rastegar.biochem.umanitoba.ca/epigenetics-in-human-disease-molecular-mechanisms-of-rett-syndrome.html

One of the best examples to study the role of epigenetic in human disease is the Rett syndrome (RTT). RTT is a postnatal, progressive, neurological disorder and the leading cause of mental retardation in females (1 in 10,000). RTT is caused by mutations in the methyl-CpG binding protein-2 (MECP2) gene.

Colleen A McClung and Eric J Nestler Neuroplasticity Mediated by Altered Gene Expression.Neuropsychopharmacology Reviews. (2008) 33, 3–17

Interestingly, a protein that binds methylated cytosines and represses transcription, MeCP2, has been associated with memory formation….This suggests that the proper balance of MeCP2 is needed for memory function.


3 responses to “Who Benefits from Research on MECP2 Duplication Syndrome?

  1. My Nephew was just diagnosed with MECP2. It’s heartbreaking. I am at a loss for what to do to help my brother and his little boy with this diagnosis. If there is anything you can guide us with please do. We need all the help we can get. Thank you in advance.

    • Hi Erin,
      I do have one suggestion that may be a good place to start. There is a private facebook group that links families of children (about 90% boys and 10% girls) and adults with MECP2 Duplication Syndrome. It is a great place for sharing information among family members and getting some mutual support. The group is called MECP2 Duplication Syndrome Family Talk and its URL is https://www.facebook.com/home.php?sk=group_122306981133980
      Some members are regular facebook users, others joined solely for this group. Once you or he goes to the page, there will be something to click on to REQUEST TO JOIN and then a message will be sent in a day or so asking to identify yourself as a family member before the membership is confirmed.

    • Learn about the child and help out as much as possible so your brother can rest from time to time. My daughter has this syndrome and I feel alone. I feel like I will never be able to do the things a normal family would do. Like go on a vacation with my husband. Like get up and go to the beach without lugging all her emergency things with me. Might can’t leave her longer than 3 hours becaus they don’t know how to feed her by gtube. It’s a hard life. But I have faith a cure will be done soon.

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