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.

Raccontata damedicalxpress.com