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Rett Syndrome Hope
25 March 2016

Rett Syndrome Hope

Discovery of a faulty connection between genes in mice with Rett syndrome has brought the possibility of effective therapies a step closer for this rare but devastating disorder in humans. The faulty link is believed to cause a gene called Irak1 to over-produce a protein, stunting the growth of brain cells called callosal projection neurons (CPNs) – pictured, stained green, in a section of a mouse cerebral cortex. When scientists reduced the activity of Irak1 in mice with Rett syndrome, levels of the protein fell back to normal, the CPNs developed properly and the mice had fewer symptoms. In humans, Rett syndrome often causes severe disability and loss of speech in girls from an early age. It’s rare in boys because male foetuses don’t often survive to birth.

Written by Mick Warwicker

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