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

Scientists at Children's Medical Center Research Institute at UT Southwestern (CRI) have discovered why babies born with a rare inborn error of metabolism called GPT2 deficiency suffer from severe neurological impairment.

Using their newly developed biosensor to track the essential metabolite alpha-ketoglutarate (αKG), researchers found that the mitochondrial enzyme GPT2 and transporter protein SLC25A11 work together to control the production and transport of αKG from the mitochondria to the nucleus. ...