Monthly Archives: January 2016

MECP2: A Big but Somewhat Blurry Picture

QuestionMarkOPINION: This week Nature published a very interesting and possibly groundbreaking study on schizophrenia. It doesn’t mention MECP2 but it does talk about the role of the pruning process in the brain. The way our brains develop is by creating a bunch of new connections and then trimming away the ones that are not needed or helpful. The article suggests that schizophrenia develops when the pruning process goes too far in some parts of the brain.  This is also consistent in some earlier reports that did suggest that certain defects in MECP2 were implicated in early onset schizophrenia.

Too much or too little MeCP2 activity has also been connected to a number of other conditions, such as Continue reading

Advertisements

MECP2 Duplication Syndrome Monkeys

An important step forward in research on MECP2 Duplication Syndrome

MECP2MomkeysResearchers at the Institute of Neuroscience, Key Laboratory of Primate Neurobiology, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai, Institutes for Biological Sciences, Chinese Academy of Sciences reported in Nature about some developmental/behavioral aspects of MECP2 Duplication Syndrome in transgenic monkeys with MECP2 overexpression.

-Zhen Liu, et al. (2016 January 25). Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. Nature, doi:10.1038/nature16533

The New York Times also published an article on this research today (15 January 2016) that includes a short video clip demonstrating some behavioral differences between the MECP2 over expressed monkeys and those with typical MECP2 levels. Both articles point to this research as an important step toward better animal models for studying autistic behaviour. While this is not the main thrust of research on MECP2 Duplication Syndrome, the prominence of these transgenic primates may help to encourage and enable research on the syndrome. In addition, th availability fo transgenic primates with MECP2 Duplication will likely become important as treatments for the syndrome get closer to being applied to humans affected by the syndrome.

Thanks to Dr. Sarika Peters for bringing this study to my attention.

 

 

 

 

Some thoughts on preventing pneumonia

pneumonia1I need to start with two disclaimers on this post. (1) This is not intended as medical advice. (2) Every individual with MECP2 Duplication Syndrome is different. Taken together this means these considerations are intended to suggest topics that families may discuss with their health care providers in order to determine IF and HOW they may apply to their child.

Children and adults with MECP2 Duplication Syndrome are always at increased risk for respiratory infections, but lately it has been particularly troubling to hear how many have been experiencing severe illnesses. It is important for parents to understand that some of this is beyond our control, no matter what we do to try to prevent it. But here are some things that might help at least a little.

Immunizations: Unless Continue reading

Family Talk Facebook Group

The MECP2 Duplication Syndrome Family Talk Facebook Group

MECP2 Duplication Syndrome Family TalkThis is a private Facebook group that links approximately 750 individuals from families affected by MECP2 Duplication Syndrome from around the world. Some members of the group are regular Facebook users while others become Facebook members solely to access the family talk group. Group members share practical information and social support.

Parents, Grandparents, Siblings, and  other relatives of children or adults with MECP2 Duplication Syndrome are welcome to join the group. Since family can be loosely defined, parents and guardians can choose to extend memberships to friends, caregivers, or others who they consider to be part of their families. Decisions about these “extended family members” are up to the parents or guardians of the individual with the syndrome.

Researchers or professionals in health, education, or other disciplines who are working in this field may request membership. These requests will be discussed among group members via the Facebook group, and approved only if their is strong support for confirming membership.

To join the group, you need to follow these steps: Continue reading