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

    Project: Research

    Project Details

    Project Description

    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.
    StatusFinished
    Effective start/end date1/01/1631/12/17

    Funding

    • Australian Academy of Science: AUD4,820.00