PhD Top-Up Scholarship Profile

Researcher

Thomas Jackson

Research Institution

BIO21 Institute, Melbourne

Project Name

Investigating Pathogenesis Associated with Dysfunctional Mitochondrial Protein Import

Project Overview

Understanding how mitochondria work is the key to finding treatments and cures for the many types of mitochondrial diseases (mito). Tom Jackson’s project focuses on increasing knowledge about a specific molecular component within mitochondria and its impact on patients with Sengers syndrome, a severe type of mito.

Inside the power plant of the mitochondrion is a workforce known as ‘proteins’. These proteins perform many critical functions of mitochondria. In healthy human cells about 1500 proteins must be moved to their correct location within mitochondria. If the process of ‘protein import’ fails to occur, the energy and production and general mitochondrial function is affected.

Thomas’ project focusses on a tiny molecular machine, the TIM22. TIM22 is involved in the import of a group of tunnel-like proteins, known as carrier proteins, which are critical for normal mitochondrial energy production. One component of TIM22, called AGK, is mutated in patients with Sengers syndrome, a severe form of mito. AGK helps to import carrier proteins into mitochondria, but also produces important lipid molecules that help mitochondria function normally.

The aim of this study is to uncover if and how the two seemingly distinct functions of AGK result in mitochondrial disease. As part of his project, Thomas will undertake characterisation of AGK’s functions and interactions in healthy and patient cells to understand how AGK function is manipulated during mito.