Rediscovering ADSLD, Recording 7, Dr. Matteo Bordi

https://www.youtube.com/watch?v=nGYRBFxQMiY

Dr. Matteo Bordi presents recent research on mitochondrial metabolism in ADSL deficiency, highlighting the complexity of ADSL Deficiency and the need for further research to understand its underlying mechanisms and potential treatments. He explained how mitochondrial morphology and activity are affected in ADSL-deficient cells, with more severe defects in cells from patients with more severe disease. The research team used various models, including human cells, fruit flies, and mice, to study the effects of ADSL deficiency. They found that over-expressing certain kinases could partially rescue mitochondrial defects in ADSL deficient cells.