How mutated ELP1 gene underlies failure to control blood pressure in familial dysautonomia
Characterised by a host of nervous system problems, Riley-Day syndrome or familial dysautonomia (FD) is an extremely rare, life-limiting genetic disorder. Due to a mutation in ELP1, a gene that under normal circumstances communicates instructions for making proteins, certain nerve cells fail to develop or survive. Difficulty controlling blood pressure is a hallmark of FD and researchers investigate ELP1's role in the nerve cells that normally mediate this reflex. Visceral sensory nerves develop from a tissue in the embryo called the placode. In a mouse model of FD where ELP1 was genetically engineered to be absent from placode cells, there were fewer visceral sensory nerve cells. This was revealed by fluorescence microscopy of collections of their cell bodies called ganglia (red) and their cell projections (green) which were both reduced in mutant mice embryos (bottom) compared with normal embryos (top). This provides insights into the mechanisms underlying FD symptoms.
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