MECP2 Triplication Syndrome

As the name implies, some individuals with extra copies of the MECP2 gene, actually more than one extra copy. This affects a small percentage of cases. While these individuals are commonly identified as having MECP2 Duplication Syndrome, they are sometimes identified as having MECP2 Triplication Syndrome. Both labels are correct. They do, after all, have a duplicate copy of the MECP2 gene, but they also have an additional duplicate.

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.

Video Lecture from Genetics Researcher Jill Clayton-Smith

AT the recent Manchester meeting, Professor Jill Clayton-Smith gave an excellent review of MECP2 Duplication Syndrome that is available on video. It is include below in two parts. There is some background noise, but overall great resources.

New Study on Role of MECP2

A new study from scientists from Harvard Medical School adds evidence to the role of the MECP2 gene as a modifier of cell’s reaction to environmental stimuli. In short, too much or too little MECP2 may result in the inability of the brain or other cells to adapt to the environment. This role has been emerging from various evidence over time, and the new study, published in Neuron, adds to this theory and provides evidence on how this happens. It may help to explain why many individuals with MECP2 Duplication or Rett syndrome like routine and show disinterest or avoidance when they encounter new situations or stimuli.

Alan Percy’s Article on MECP2 and Autism

The August 2011 issue of Archives of Neurology includes an article titled “Rett Syndrome: Exploring the Autism Link“  by Alan Percy. Many readers of this blog will be familiar with Dr. Percy and his work on Rett syndrome, MECP2 duplication syndrome, and other MECP2 disorders. He is a Professor at the University of Alabama at Birmingham.

Congenital Megacolon & MECP2 Duplication Syndrome

A new article in BioMed Central Medical Genetics links MECP2 Duplication Syndrome and Hirschprung Disease, also known as Congenital Megacolon. The authors report on a child diagnosed with both conditions. They point out that teh L1CAM and MECP2 genes are in close physical proximity, that defects in L1CAM have already been linked to megacolon in some cases,  and that most individuals with MECP2 duplication also have duplication of the L1CAM gene.

MeCP2 and Cocaine Addiction

18 August 2010 – Jupiter, FL, USA Lab researchers at the Scripps research Institute have found a link between methyl CpG binding protein 2 (MeCP2), the protein produced by the MECP2 gene and cocaine addiction in lab rats. When MeCP2 levels were high, rats were more vulnerable to addiction and cocaine exposure also increased the level of the protein. At first glance this seems to have little direct relevance to those born with extra MECP2 gene copies, but this and a wide variety of other studies now probing the role of MECP2 may eventually help clarify how the gene operates and whether somethings may be useful in up-regulating or down-regulating the gene activity. For more, on this see: Epigenie

Genetics and MECP2 Duplication syndrome

15 July 2010 – Genetics Conference Call Dr. Steve provided a conference call for families that was organized by Jennifer Endres who coordinates the Males Group for the International Rett Syndrome Foundation. The topics included both Male Rett Syndrome and MECP2 Duplication Syndrome. Lots of information was covered. The call is approximately one hour, was recorded and is available for listening by clicking here MECP2 Genetics Conference Call.

American Journal of Medical Genetics Article

A new research review article is being published in the American Journal of Clinical Genetics that reviews information to date on MECP2 Duplication Syndrome and adds a few new pieces to the puzzle. “The MECP2 Duplication Syndrome” by Melissa Ramocki, Jane Tavyev,and  Sarika Peters form the Department of Pediatrics, Baylor College of Medicine is the most complete summary to date of information about the syndrome, pulling together information from previous published articles and added some new information.

Down syndrome & MECP2

Research published in the November 6, 2009 issue of Journal of Biological Chemistry suggests that MECP2 may play a role in producing the symptoms seen in Down syndrome. Down syndrome is caused by an extra copy of Chromosme 21. These researchers suggest that the extra copy of Chromosme 21 produses its symptoms through the overexpression of a gene known as Hsa-21. This results in supression of MECP2 activity.