Missing metabolite may drive rare childhood brain disorder, new biosensor reveals

Scientists astatine Children's Medical Center Research Institute astatine UT Southwestern (CRI) person discovered wherefore babies calved with a uncommon inborn mistake of metabolism called GPT2 deficiency endure from terrible neurological impairment. Using their recently developed biosensor to way the indispensable metabolite alpha-ketoglutarate (αKG), researchers recovered that the mitochondrial enzyme GPT2 and transporter macromolecule SLC25A11 enactment unneurotic to power the accumulation and transport of αKG from the mitochondria to the nucleus.