Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes.
Rylan Allemang-Grand, Jacob Ellegood, Leigh Spencer Noakes and 4 others
PMID 28670438WHAT IT FOUND
In mouse Rett models, complete Mecp2 loss produced large brain volume reductions, while a milder mutation produced smaller changes and some cerebellar increases.
Volume tracked behavioral severity, but this is animal neuroanatomy.
Key findings
01Complete loss of functional Mecp2 in mice caused widespread brain volume reductions compared with controls.
02A less severe Mecp2 truncation mutation produced smaller regional changes and increased some cerebellar volumes.
03In null male mice, more severe Rett-like behavior was associated with smaller volumes in motor-related brain areas.
STILL TO COME
How it was doneWhat they found
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What it does not show
The work was done in mice, not in people with Rett syndrome. The brains were fixed after perfusion, so the findings do not show live human brain changes. No treatment was tested in this study. Imaging parameters changed during the study across groups. Many brain regions were tested, and some correlations were reported without correction for many comparisons. The study did not establish cause, only associations between volume and behavior.
The easy way to misread this
Do not conclude that these mouse brain changes prove a diagnostic test or treatment effect in human Rett syndrome. The study used fixed mouse brains, not living patients, and no therapy was tested.