A mutation that prevents certain amino acids from entering neurons leads to the cells’ death early in brain development, according to a new study in mice. The findings provide clues to what happens in the brains of people with the mutation, which is linked to autism.
The mutation affects the SLC7A5 gene, which encodes a protein that transports some large amino acids across the blood-brain barrier. Most of these amino acids are essential, meaning the body cannot produce them and has to get them from food. Mice missing the SLC7A5 gene in cells of the blood-brain barrier develop microcephaly, or an unusually small brain, after birth and have motor and social difficulties, a 2016 study showed.
In the new study, published last month in Cell, the same team of researchers discovered that neurons in the mouse brain also express SLC7A5. Knocking the gene out of some of those neurons starves ...
