5hmC and A new role for MECP2?

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.

Bone Density, Osteopenia, Osteoporosis, and Fractures: Part 1

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,

AKA MECP2 Duplication Syndrome

Over the years, MECP2 Duplication Syndrome has been also know as (AKA) a number of other names. Some of these might be considered to be exact duplicates. Others are overlapping categories. Here is a short (and likely incomplete)  list of names, posted here for two reasons. (1) this may help families or other interested people to find this website if they have been given one of the other names. (2) If anyone is searching for information regarding MECP2 Duplication Syndrome, they may have better results if they use a number of these search terms.

Major Breakthrough on Understanding Infections & MECP2 Duplication

The cover story in this weeks Science Translational Medicine reports on a new study that provides knowledge that is a critical first step in understanding the immune deficiency among individuals with MECP2 Duplication. Researchers found that both children and adults with the syndrome and lab mice with MECP2 Duplications lacked the ability to produce gamma interferon from specific T cells.

DSM-IV / DSM-V: Autism, Rett, and MECP2 Duplication Syndrome

There has been a great deal of concern about “the removal of Rett syndrome” from the DSM-V. For those who aren’t familiar with the DSM, it is the Diagnostic and Statistical Manual of the American Psychiatric Association. Here is the issue: The DSM-IV had a category called Autism Spectrum Disorder. It included Autism and a few other things that were not exactly autism, but shared some features of autism. Included in the Autism Spectrum Disorder was Rett Syndrome. So it defined Rett syndrome as part of the spectrum but different from AUTISM itself. The new definition makes no mention of Rett syndrome and many people interpret that as saying that Rett syndrome has been taken out of the DSM.

New Study on Autism and MECP2 Duplication

Sarika U. Peters, Rachel J. Hundley, Amy K. Wilson, Zachary Warren, Alison Vehorn, Claudia M. B. Carvalho, James R. Lupski, Melissa B. Ramocki. (2012). The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism, Autism Research, published 20 Nov 2012

A new article published in Autism Research compares the behavioral characteristics of boys with MECP2 Duplication Syndrome to the behavioral characteristics of boys with idiopathic autism (i.e., autism that is not known to be secondary to some other condition).

A Mouse Model for MeCP2 Duplication Syndrome

Elisa S. Na, Erika D. Nelson,Megumi Adachi, Anita E. Autry,Melissa A. Mahgoub, Ege T. Kavalali, and Lisa M. Monteggia. A Mouse Model for MeCP2 Duplication Syndrome: MeCP2 Overexpression Impairs Learning and Memory and Synaptic Transmission. The Journal of Neuroscience, 29 February 2012, 32(9): 3109-3117; doi: 10.1523/​Journal of Neuroscience. 6000-11.2012

For those interested in reading more about the MECP2 Duplication mice being used in scientific studies, here is a a full description. The full article appears to be available online at no charge. The article is written for researchers and parts of it may be to specialized for casual readers, but overall it gives a good description of the genetically engineered MECP2 Duplication mice and their similarities to humans with MECP2 Duplication Syndrome.

Partial Duplication of MECP2 Gene

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3′ untranslated region in the MECP2 duplication phenotype

Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski and Sau Wai Cheung

 BMC Medical Genetics 2012, 13:71 doi:10.1186/1471-2350-13-71

A new report published in BMC Medical Genetics describes a family including a father and daughter with a small Xq28 duplication including part of the MECP2 gene. This report includes several interesting findings.

Unique Guide to Xq28 Duplications

Here is a truly great resource. From Unique in the UK. The Unique organization describes themselves as follows:

The Gene Hunt and Developmental Disabilities

17 April 2012 Today’s issue of nature includes and article titled “Gene hunt is on for mental disability: Pioneering clinical genome-sequencing projects focus on patients with developmental delay.” It describes some of the relatively recent  developments in the widespread use of partial- and full-genome testing for developmental disability syndromes. According to the article:

Joining the hunt is a UK-based programme called Deciphering Developmental Disorders, which expects to sequence 1,000 exomes [sections of DNA that are known to cause actual attributes in individuals] by the year’s end, with an ultimate goal of diagnosing up to 12,000 British children with developmental delay. A Canadian project called FORGE (finding of rare disease genes) aims to sequence children and families with 200 different disorders this year. And in the United States, the National Human Genome Research Institute in Bethesda, Maryland, recently funded three Mendelian Disorders Sequencing Centers that will apply genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmental delay.