080210xf's Blog

L'X fragile sera vaincu | Fragile X will be conquered

Studies tie fragile X syndrome to famous cancer pathway

Victoria Stern, Sfari.org |

A drug that interferes with a biochemical pathway important in cancer can reverse some brain defects in mouse models of fragile X syndrome, according to a study published 11 August in the Journal of Neuroscience.

Several genetic and animal studies in the past few years have linked the same pathway, called the phosphoinositide 3-kinase (PI3K) pathway, to autism.

The new report is one of the first to investigate the pathway’s role in fragile X syndrome, a genetic disease that leads to mental retardation and, in about one-third of cases, autism.

The findings suggest that glitches in PI3K could explain some of the overlap between the conditions, according to lead investigator Gary Bassell, professor of cell biology at Emory University in Atlanta.

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