Authors: Wardiya Afshar-Saber, Nicole A. Teaney, Kellen D. Winden, Hellen Jumo, Xutong Shi, Gabrielle McGinty, Jed Hubbs, Cidi Chen, Itay Tokatly Latzer, Federico Gasparoli, Darius Ebrahimi-Fakhari, Elizabeth D. Buttermore, Jean-Baptiste Roullet, Phillip L. Pearl, and Mustafa Sahin
Neurobiology of Disease, 16 December 2023
Scientists use Axion’s Maestro MEA to investigate the role of SSADHD in human inhibitory and excitatory cortical neurons.
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare genetic disorder caused by mutations in the ALDH5A1 gene and characterized by a wide range of neurologic and metabolic symptoms including seizure and developmental delay. Previous research demonstrates that epilepsy in SSADHD is related to altered neurotransmission due to an increase in gamma-amino butyric acid (GABA) and the downstream accumulation of gamma-hydroxybutyrate (GHB), but this relationship is not fully understood. In this study, researchers use Axion’s Maestro multielectrode array (MEA) and other methods to explore the underlying disease mechanisms of SSADHD in GABAergic and glutamatergic stem-cell derived neurons. Overall, according to the authors, “the findings uncover a previously unknown role for SSADHD in excitatory human neurons and provide unique insights into the cellular and molecular basis of SSADHD and potential therapeutic interventions.”