Children with a genetic disease called tuberous sclerosis complex (TSC) develop benign growths in various tissues, including the central nervous system where the growths cause epilepsy, autism and mental retardation. Rossella Galli at the San Raffaele Scientific Institute in Milan, Italy, and her colleagues have pinpointed a population of embryonic cells in mice that, when mutated, bring about signs of the disease.
The researchers engineered mice in which they could inactivate the gene Tsc1, which is linked to TSC, in a group of embryonic neural stem cells. These cells give rise to the brain regions affected by the disorder. Shortly after birth, the mice had lesions in those brain areas and suffered from seizures.
The team then isolated these mutant stem cells and administered rapamycin, a molecule that blocks a pathway, called mTOR, that is overactive in TSC. This reduced the cells' size and other defects. The authors conclude that mTOR activation must be finely tuned in these cells for normal neural development.
Rights and permissions
About this article
Cite this article
Cell source for brain disorder. Nature 479, 270 (2011). https://doi.org/10.1038/479270c
Published:
Issue Date:
DOI: https://doi.org/10.1038/479270c
