BRC Biomedical PhD Student
Interrogating mitochondrial dysfunction in human facial appearance and ageing
Roisin Stout
The main objective of this project is to investigate the role of mitochondrial dysfunction in ageing- specifically in relation to the skin.
The Study
Mitochondria are the batteries of the cell supplying them with energy. There are hundreds to thousands present in every cell of the human body each with many copies of their own DNA, separate from that in the nucleus.
Mitochondrial dysfunction has been linked to ageing for years, with evidence of increased mitochondrial DNA mutations and decreased function observed in ageing tissues. Primary mitochondrial disease (MD) is a broad term for nuclear or mtDNA alterations which affect mitochondrial function. Patients with some genetic variants exhibit age-related diseases prematurely. This project investigates the underlying link between mitochondria and ageing using genetic mitochondrial disease as a model.
Using a computer programme, ‘perceived age’ versus ‘actual age’ of both patient and control facial images will be calculated. This will help identify whether patients with mitochondrial dysfunction are more susceptible to premature ageing than those without. This will be investigated further to determine the features contributing to premature ageing and to determine any link between mitochondrial dysfunction and predisposition to stressors- like sunlight.
If premature ageing is present in these patients, it could identify an area in which to develop a new model for ageing research. It would also provide further evidence that mitochondrial dysfunction in skin is directly linked to accelerated skin ageing as bioenergy declines.
Project milestones
- Literature review and contribute to the ongoing acquisition of facial images of patients with mitochondrial disease, their near relatives and healthy controls using the VISIA CR system.
- Modify and establish data analysis procedures to derive clinical and age related measures from the captured facial images.
- Evaluate ‘perceived age’ versus actual age to establish a basis for exploration of underlying determinants and mechanisms.
- Collect skin swab samples from a sun-exposed area on each side of the face and from a non-sun exposed site in people with mitochondrial disease, their near relatives and healthy controls with matched facial images and clinical assessments. Mitochondrial damage and dysfunction will be assessed in the skin swab samples (established techniques, Birch-Machin).
- Explore the associations between derived and observed measures (mitochondrial damage and dysfunction) and features with respect to premature ageing and as a non-invasive diagnostic tool for improved clinical characterisation