Saturday, May 9, 2015

Rett syndrome and the immune system

UVA’s discovery suggests that immune cells bearing a mutation in the Rett gene, MeCP2, cannot perform their normal function and are instead amplifying the disease. By identifying a new role of the immune system in the disorder, through cells known as "macrophages," the UVA team has opened up an exciting new pathway to targeting the disease therapeutically...

"These immune cells may be functioning OK when there is no problem, but the moment there is any sort of problem in any tissue, to respond they need this gene," said Jonathan Kipnis, PhD, of the UVA Department of Neuroscience. "And without this gene, macrophages not only do not respond properly. They respond abruptly, and they start to produce molecules that are further damaging the tissue. ... Cells which are supposed to maintain tissue are killing that tissue."

Cronk JC, Derecki NC, Ji E, Xu Y, Lampano AE, Smirnov I, Baker W, Norris GT,
Marin I, Coddington N, Wolf Y, Turner SD, Aderem A, Klibanov AL, Harris TH, Jung
S, Litvak V, Kipnis J. Methyl-CpG Binding Protein 2 Regulates Microglia and
Macrophage Gene Expression in Response to Inflammatory Stimuli. Immunity. 2015
Apr 21;42(4):679-91.

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