Neurodevelopmental disorders: when more is less?

摘要

Fragile X syndrome and Down syndrome are associated with increased protein expression. In fragile X syndrome, the loss of fragile X mental retardation protein (FMRP) results in the excessive translation of a subset of neuronal mRNAs. In Down syndrome, the presence of an extra copy of human chromosome 21 results in the overexpression of genes located there. In a study published in Nature Neurosdence, Chen and colleagues show that excessive levels of Down syndrome cell adhesion molecule (DSCAM) may underlie the altered neural wiring, and potentially the intellectual disability, that characterizes these two syndromes.