MECP2 Duplication Syndrome News and Research

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Researchers characterize regions of DNA that impact MECP2 expression

Researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital (NRI) have identified and characterized two regions of DNA required for the proper expression of Mecp2/MECP2 in mice and humans.

19 Mar 2021

New evidence supports the use of antisense oligonucleotides as feasible therapeutic strategy for MDS

Many cognitive neurodevelopmental disorders are a result of too many or too few copies of certain genes or chromosomes.

5 Mar 2021

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Rettsyndrome.org announced their funding of two new research projects today. Jeannie T. Lee, MD, Ph.D. of Massachusetts General Hospital is awarded a two-year ANGEL Grant for $600,000 to focus on reactivating the silent X chromosome for Rett syndrome and Davut Pehlivan, MDof Baylor College of Medicine is awarded a two-year Mentored Clinical Fellowship for $250,000 to study MECP2 Duplication syndrome.

6 Jun 2019

Recent findings on rare genetic disorder may help develop new treatment options

Fresh discoveries about a rare genetic disorder that affects mainly boys may inform the development of therapies to treat the condition.

13 Dec 2018

Targeting biochemical pathway may lead to new therapies for alleviating symptoms of anxiety disorders

According to some estimates, up to one in three people around the world may experience severe anxiety in their lifetime.

12 Dec 2018

New strategy allows researchers to identify potential treatments for altered levels of MeCP2

Having twice the normal amount of the protein MeCP2, a condition called MECP2 duplication syndrome, causes severe progressive neuropsychiatric disorders that include intellectual disability, autism spectrum disorders, motor dysfunction and other medical complications.

24 Aug 2017

Research reveals MECP2 Duplication Syndrome can be reversed

The methyl CpG binding protein 2 gene (MECP2) produces a protein of the same name, the level of which is critical for normal brain function. Mutations leading to protein under-expression cause Rett Syndrome while gene duplication causing over-expression lead to MECP2 Duplication Syndrome. Both disorders are severely debilitating childhood neurological diseases.

26 Nov 2015

Research suggests gene therapy approach may be feasible option to treat Rett Syndrome

The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated. New research published today in the Journal of Neuroscience suggests this approach may eventually be a feasible option to treat Rett Syndrome, the most disabling of the autism spectrum disorders.

21 Aug 2013

Cause of recurrent infections in MECP2 duplication syndrome identified

US study results show that the genetic abnormality underlying the pediatric condition methyl-CpG binding protein 2 duplication syndrome also causes immune dysfunction.

24 Dec 2012

Scientists identify two genes involved in major symptoms of MeCP2 duplication disorder

The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating these problems in patients with too much of the protein, said Baylor of Medicine scientists in a report that appears online in the journal Nature Genetics.

8 Jan 2012

Researchers identify unusual genomic architecture linked with very severe forms of disease

When cells divide normally, DNA gets copied perfectly and distributed among the daughter cells with an even hand. Occasionally though, DNA breaks during division and is rearranged, resulting in duplications or deletions of important parts of the blueprint.

3 Oct 2011

Rett syndrome gene found to be full of surprises

A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett syndrome was an "off" switch, or repressor, for other genes. But the new study, published today in Science, shows that it is an "on" switch for a startlingly large number of genes.

29 May 2008