A PhD student in the Perkins’ Mitochondrial Medicine and Biology Laboratory has come up with interesting findings after investigating a protein, which is associated with mitochondria, the tiny organelles in human cells which produce energy for the body.
“Until now the role of this particular protein (AUH) was not known,” said Tara Richman who is a recipient of a prestigious NHMRC Dora Lush scholarship.
“We found that it helps mitochondria to create proteins which are used for energy production. When there was too much or too little AUH, there was a dysfunction in mitochondrial function or structure.”
AUH is a bi-functional protein and Ms Richman found that both its roles are needed for mitochondria to function properly.
“When the AUH gene is mutated, it causes a metabolic disease, so understanding more about it takes us a step closer to understanding how to treat diseases caused by mitochondrial dysfunction, as well as understand how mitochondria regulate their gene expression, which is currently poorly understood,” Ms Richman said.
Mitochondrial diseases affect children as well as adults and can cause symptoms including hearing and visual loss, epilepsy, dementia, heart failure, or progressive muscle weakness.
The Harry Perkins Institute of Medical Research’s Mitochondrial group, headed by Professor Aleksandra Filipovska, uses cutting edge technologies to identify mutations that cause mitochondrial disease in patients, with the aim of developing future treatments for the disease.
The paper by Ms Richman, A bifunctional protein regulates mitochondrial gene expression, has been published in the international journal, Nucleic Acids Research. It is the first paper for Ms Richman who said that it was exciting to have her findings published from her doctoral work.