Impaired gene expression causes mitochondrial disease

PhD Top-up Scholarships

$10,500 AUD

01/08/2014 → 01/02/2018

Carolyn Sue


Kara Perks


University of Western Australia


Professor Aleksandra Filipovska and Dr Dimitar Azmanov

Project Name

Impaired gene expression causes mitochondrial disease

Project Details

Did you know that our cells actually switch genes on and off at certain times, depending on input from their environment? Kara Perks is a PhD candidate at University of Western Australia who is studying this phenomenon in mitochondria. Kara plans to demonstrate how certain mutations in genes that make the building blocks of mitochondria cause disease. Kara is studying how genes are expressed in mitochondria and how mutations can affect these processes to cause disease.

Mitochondria are distinct from the other parts the cell because they contain their own genetic information. Every other component of our cells is built from a DNA code stored in the nucleus, but mitochondria actually contain their own DNA and cellular building machinery. The protein that Kara studies, has a direct effect on the blueprint known as RNA that is used by the building machinery inside mitochondria. Our cells contain machinery much like a 3D printer to build complex components in many shapes and sizes. RNA is a crucial part of this printer. They carry structural and functional information about how proteins can be produced.  Kara is investigating these interesting processes inside mitochondria to understand how mutations in the machinery that produces proteins can lead to mitochondrial dysfunction.  Mitochondrial dysfunction is the major cause of mitochondrial diseases that affects oxygen consumption, the integrity of mitochondria, and overall energy production. Elucidating how core processes are impaired inside mitochondria will provide much needed targets for drug development or insight into processes that are dysfunctional and can be treated with existing medication.

In the lab, Kara use exciting and cutting edge techniques to investigate mitochondrial gene expression and energy production to understand how impaired function causes symptoms of mitochondrial disease. This will help us understand how disease results from changes in the way mitochondria communicate with the rest of the cell. Discovering how certain molecules affect mitochondria, Kara’s research lays the groundwork for drug design and therapeutic intervention and a step closer to a viable treatment for mitochondrial diseases.