Understanding how defects in mitochondrial sugar and fat metabolism cause mitochondrial disease

Mitochondria generate most of the energy required for cellular function by oxidizing fats and
sugars. Disruption of this process can result in fatal mitochondrial disease, affecting heart, brain
and liver function. We will use skin cells from patients with defects in mitochondrial fat
metabolism to determine how these defects disrupt mitochondrial function. We will also convert
these skin cells into pluripotent stem cells for differentiation into cardiomyocytes and neurons.
This will allow us to model human mitochondrial disease directly in the heart and brain for the
first time, providing novel, cell type-specific insights into mitochondrial disease pathology.