Johns Hopkins study links liver and brain to epilepsy symptoms

A study from Johns Hopkins Medicine, published in Science Advances, has identified that the liver and brain drive distinct symptoms in patients with pyridoxine-dependent epilepsy (PDE). Using genetically engineered mice to model the ALDH7A1 gene mutation, researchers discovered that the loss of the gene in liver cells primarily increases susceptibility to seizures.

Conversely, the loss of the gene in astrocytes—specialized brain cells—was found to be responsible for psychiatric symptoms, such as depressive-like behavior, reduced motivation, and decreased self-care. This suggests that neurological and psychiatric symptoms from the same genetic mutation can arise from different biological and metabolic processes.

The study also noted that sulforaphane, an antioxidant found in broccoli sprouts, was able to reverse psychiatric symptoms in the mice. While vitamin B6 is currently used to manage seizures in PDE patients, researchers suggest sulforaphane could potentially be used as a supplemental treatment to address associated psychiatric symptoms.