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A role for glia in the progression of Rett syndrome
Date:6/29/2011

A paper published online today in Nature reveals that glia play a key role in preventing the progression of the most prominent Rett Syndrome symptoms displayed by mouse models of the disease: lethality, irregular breathing and apneas, hypoactivity and decreased dendritic complexity. The discovery, funded in part by the Rett Syndrome Research Trust (RSRT) was led by Gail Mandel, Ph.D., an investigator of the Howard Hughes Medical Institute at Oregon Health and Science University.

Rett Syndrome, the most physically disabling of the autism spectrum disorders, is caused by mutations in the methyl CpG-binding protein (MeCP2). Rett Syndrome strikes little girls almost exclusively, with first symptoms usually appearing before the age of 18 months. These children lose speech, motor control and functional hand use, and many suffer from seizures, orthopedic and severe digestive problems, breathing and other autonomic impairments. Most live into adulthood, and require total, round- the- clock care. There are several mouse models for RTT in which MeCP2 has been deleted: these mice accurately recapitulate many of the human symptoms.

In a seminal 2007 Science paper, Adrian Bird and colleagues from the University of Edinburgh showed that global re-expression of MeCP2 in mouse models dramatically reversed Rett symptoms, even in very late-stage disease. This led to the idea that the damage to neurons in RTT was reversible.

In 2009, Mandel and collaborator Nurit Ballas (Stony Brook University) showed that the MeCP2 protein was present in all types of glia. Glial cells are comprised of astrocytes, oligodendrocytes and microglia. Glia support and interact with neurons in innumerable ways, from providing the structural underpinnings and guidance of axons and dendrites (the neuronal processes that carry information), to creating protective insulation for axons, to providing energy substrates necessary for neuronal function. Until the reports o
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Contact: Monica Coenraads
monica@rsrt.org
203-445-0041
Rett Syndrome Research Trust
Source:Eurekalert

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