Molecular mechanism underlying severe anomalies of the forebrain revealed

Researchers of the Max Delbrück Center for Molecular Medicine Berlin-Buch have now identified and described a molecular mechanism underlying the most common malformation of the brain in humans. In holoprosencephaly (HPE), the forebrain is incompletely formed. Researchers have discovered that a receptor for cholesterol plays a key role in this. If this receptor is defective, specific signals cannot be received, and the forebrain cannot separate into two hemispheres, as the researchers have now shown in mice. The human brain develops from the neural tube, a simple tube-like cluster of cells in the embryo. Why defects in cholesterol metabolism lead to a developmental disorder of the neural tube and to HPE is thus far not completely understood. The studies of the Berlin researchers may give a possible clue. They identified a receptor called LRP2 that is formed in the neural tube and can bind lipoproteins, which are the transport form of cholesterol.