Cell model of brain provides new knowledge of developmental disease
Lissencephaly is a rare congenital developmental disease that can be caused by, amongst other anomalies, a mutation of the DCX gene. Affected individuals are born with serious developmental disabilities and a brain that is smooth instead of folded. The discovery that it is possible to reprogramme specialised cells such as skin cells in order to reverse their development back to stem cells was rewarded with the 2012 Nobel Prize. The resulting so-called iPS-cells (induced pluripotent stem cells) can then be turned into other specialised cell types. Anna Falk, docent at Karolinska Institutet's Department of Neuroscience, uses this technique to build cell models of the human brain. In the present study, her team took skin cells from patients with lissencephaly and turned them into iPS cells, which they then cultivated under special conditions into neuronal stem cells and neurons that are copies of those in the patients' brains. By examining the cell cultivation dishes, the ...