Healthy mitochondria are critical for neuronal function. They produce the ATP required to power neurons and regulate calcium signalling, essential for synaptic transmission. Consequently, mitochondrial damage is frequently associated with neurodegenerative disease. One such disease is ataxia, a rare movement disorder that can be caused by deficits in a mitochondrial localised lipid transporter protein.
In this project, the student will characterise fibroblasts and IPSC cells (induced pluripotent stem cells) derived from a patient with ataxia. The student will undertake a range of cell biology and biochemical techniques, including cell culture, proteomics, metabolomics, as well as specialised assays for mitochondrial function. Results are expected to yield cellular biomarkers that can track disease progression and will advance our understanding of the molecular mechanisms that underlie disease.
Sylvie Callegari is a senior postdoctoral researcher in the lab of David Komander. The Komander lab works on ubiquitination in health and disease, with a focus on neurodegenerative disease such as Parkinson’s disease.
The lab is a highly motivated and multidisciplinary team comprising structural biologists, biochemists, chemists and cell biologists. We use a range of the latest techniques including crystallography, Cryo-EM, proteomics and cell biology. We hope to uncover new diagnostics and treatments to stop or delay incurable neurodegenerative conditions.