Publication date: May 29, 2021
Disrupted signals: Zebrafish missing both copies of the gene CHD7 (right) have fewer brain cells that produce the inhibitory neurotransmitter GABA than fish with two intact copies (left). Zebrafish lacking both copies of the gene are hyperactive at night, unlike controls and fish missing just one copy, the new study shows. Patten and his colleagues found that the fish show dysregulation along the MAPK/ERK signaling pathway, which is involved in cell growth and implicated in other autism-related neurodevelopmental conditions. Worms and zebrafish missing both copies of the gene CHD7 have a disrupted cellular signaling pathway, a dearth of inhibitory neurons and behavioral challenges. People with a mutated copy of CHD7 often have CHARGE syndrome, a condition that can cause heart and eye defects, stunted growth, attention deficit hyperactivity disorder and autism. People with CHARGE syndrome generally have only one altered copy of the gene, whereas the fish have two. They found that one, the stimulant ephedrine, significantly restored GABA neuron function and suppressed hyperactivity in the fish.
|disease||MESH||attention deficit hyperactivity disorder|