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,

New Perspectives on Carrier Status

Back when I was going to school, I learned that on average every human being is a carrier for about 8 different  genetic defects. That was a long time ago, long before many modern advances in genetics including mapping of the human genome. We now know that most people are carriers of at least 400 genetic variants, and this number is likely to increase as genetic science progresses.

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.

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:

Xq28 /MECP2 Duplication and Translocation

This diagram represents a map the X Chromosome.

The specific  colors don’t represent anything except

Conference Call on Research

Last week there was a conference call that involved Physician and researcher Melissa Ramocki, Monica Coenraads from the Rett Syndrome Research Trust, and about 35 parents of children and adults with MECP2 Duplication Syndrome. The call includes a great summary of some of the current research. In spite of some extra noise in the recording it is well worth listening to. It is expected to be available on this link for another few weeks.

Developmental Disorders, Arrest & Reversal

Lately we have been hearing a lot about reversal experiments in mice. One might wonder, “if they can reverse Rett syndrome or Fragile X syndrome, or hopefully MECP2 duplication syndrome in mice, why the heck don’t they reverse it in my kid?” Sometimes it seems like mice must have better healthcare than people.

Gene Duplication and Ultrametabolizers

The unfortunate deaths of a number of children who were medicated with codeine is increasing interest in gene duplications. As reported in Pediatrics, These children died after receiving what would have been considered safe doses of codeine after minor surgery. Codeine is metabolized into morphine in the human body, and tests showed high  blood levels of morphine that would normally indicate that these children had received much higher doses.

MECP2, Fruit Flies, and Sleep

13 March 2012 The Genetics Society of America reported this week on some studies looking at the effects of human genes in Drosophila melanogaster, better known to most of us as fruit flies. Among these reports are a study of MECP2 levels in flies that have MECP2 genes added. MECP2 is not normally present in fruit flies. Sarah Certel, Ph.D., assistant professor of biological sciences at the University of Montana-Missoula found that the extra MECP2 resulted in fragmented sleep, a finding that should not be surprising to those familiar with MECP2 Duplication Syndrome. MECP2 has previously been shown to be critical in the regulation of circadian rhythms which regulate the sleep-wake cycle according to the presence of light.