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A recent study from Johns Hopkins Medicine reveals that pathways in both the liver and brain contribute to different symptoms of the same rare inherited disorder.

Published in the journal Science Advances, the study used mice genetically engineered to model pyridoxine-dependent epilepsy, a rare disorder caused by mutations in the ALDH7A1 gene. The researchers found that loss of ALDH7A1 in liver cells was primarily responsible for the mice's increased susceptibility to seizures.

In contrast, loss of the gene in specialized brain cells called astrocytes was responsible for changes associated with psychiatric symptoms, including depressive-like behavior, reduced motivation, passive coping and decreased self-care. This research adds to growing evidence that neurological and psychiatric symptoms arising from the same genetic mutation can stem from distinct biological and metabolic processes.

The study also found that sulforaphane, an antioxidant compound found in broccoli sprouts, reversed psychiatric symptoms in the mice. While vitamin B6 is used to control seizures in people with pyridoxine-dependent epilepsy, sulforaphane could potentially be added to treatment to address the psychiatric symptoms associated with the disorder.

"An important implication of this work is that the symptoms we see in a rare neurological disorder do not necessarily have to come from the same place or through the same mechanism," says Dr. Akira Sawa, director of the Johns Hopkins Schizophrenia Center and professor of psychiatry and behavioral sciences at Johns Hopkins Medicine.

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