Familial dysautonomia arises from the inappropriate splicing of an mRNA that encodes a kinase inhibitor; this affects sensory and autonomic functions of the peripheral nervous system, and those affected die young. George et al. have looked at the function of the inhibitor in the neural crest lineage, which is the source of much of the peripheral nervous system. In mice without the inhibitor, there were fewer than normal neurons in the superior cervical ganglia and dorsal root ganglia (DRG).
展开▼
