Functional Genomic Analyses Of Mitochondrial Disorders
Funder
National Health and Medical Research Council
Funding Amount
$577,001.00
Summary
Mitochondria produce most of the energy required by our bodies. Mutations in genes that make mitochondrial proteins cause mitochondrial dysfunction and lead to neurodegenerative and muscular diseases. We will identify mutations in mitochondrial genes in members of different Bulgarian and Gypsy families and discovery the mechanisms by which the mutations lead to disease.
Mitochondrial Enzyme Regulates RNA Metabolism In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$67,381.00
Summary
Mitochondria are microscopic, energy producing machines that are found in all human cells. Mitochondria contain a small set of genes that must work properly to make the energy our bodies require for health. Defects in the expression of genes coding for mitochondrial proteins causes debilitating diseases for which there are effective treatments. I will investigate how a mitochondrial protein whose dysfunction is known to cause a metabolic disease regulates mitochondrial gene expression.
Regulation Of RNA Processing In The Mitochondrial Disease MELAS
Funder
National Health and Medical Research Council
Funding Amount
$520,977.00
Summary
Mitochondria are microscopic, energy producing machines that are found in all human cells. Mitochondria contain a small set of genes that must work properly to make the energy our bodies require for health. Defects in the expression of mitochondrial genes cause debilitating diseases for which there are currently no cures. We have developed a new set of technologies that will be applied to understand how these mutations cause disease and provide insights into possible treatments.
Regulation Of Mitochondrial Gene Expression In Disease
Funder
National Health and Medical Research Council
Funding Amount
$697,209.00
Summary
Mitochondria are microscopic powerplants that produce most of the energy in cells. Genes that make mitochondrial proteins must work properly to make the energy our bodies require for health. Defects in the expression of mitochondrial genes cause debilitating diseases for which there are no cures currently. A/Prof Filipovska will use new technologies to understand how these mutations cause disease and develop therapeutics for treatments of diseases caused by defects in mitochondrial genes.
The Role Of Mitochondrial Dysfunction In Metabolic Disease
Funder
National Health and Medical Research Council
Funding Amount
$61,383.00
Summary
We have previously found that PTCD1 can regulate mitochondrial gene expression and metabolism in cells (Mercer et al., 2011 and Lopez Sanchez et al., 2011). There is still much to learn about the mitochondria and their DNA. Charactering PTCD1, a protein that has previously seen little research, will enable us to elucidate the role of this protein in mitochondria and energy metabolism in an effort to increase understanding of obesity and type 2 diabetes.
Systems Approaches To Understanding The Assembly Of Mitochondrial Machines
Funder
National Health and Medical Research Council
Funding Amount
$600,005.00
Summary
Mitochondria produce the energy for our bodies. Defects in this process cause mitochondrial disease, which affects at least 1/5000 people. Diagnosis is often inconclusive as we do not understand the function of many proteins important in mitochondrial energy production. State of the art CRISPR gene-editing tools will be coupled with advanced proteomics techniques to model different types of mitochondrial disease and identify the functions of new candidate disease genes.
Carolyn Sue is a neurologist and scientist investigating the role of disturbed mitochondrial function in human disease. Mitochondria play a key role in maintaining energy levels and the cell’s health. When this function is impaired, cells may degenerate or die, and thus cause human disease. Dr Sue’s research is aimed at seeking improved treatments to treat mitochondrial disease and to further understanding about how brain cells degenerate when the mitochondria fail.
Mitophagy And Mitochondrial Biogenesis In Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$307,946.00
Summary
Mutations in mitochondrial DNA and nuclear encoded mitochondrial genes cause mitochondrial disease, with one in every 250 Australians carrying a pathogenic mutation. In this project, we will further define the basic function of mitophagy (process that results in the recycling of defective mitochondria) and mitochondrial biogenesis (production of new mitochondria). Additionally, experimentally induced enhancement of mitophagy or biogenesis will be assessed as a potential therapy for patients with ....Mutations in mitochondrial DNA and nuclear encoded mitochondrial genes cause mitochondrial disease, with one in every 250 Australians carrying a pathogenic mutation. In this project, we will further define the basic function of mitophagy (process that results in the recycling of defective mitochondria) and mitochondrial biogenesis (production of new mitochondria). Additionally, experimentally induced enhancement of mitophagy or biogenesis will be assessed as a potential therapy for patients with mitochondrial disease.Read moreRead less
Assembly And Misassembly Of Mitochondrial Respiratory Chain Complex I
Funder
National Health and Medical Research Council
Funding Amount
$520,520.00
Summary
Mitochondria are the powerhouses in our cells. They burn the carbon fuels we eat and store the energy by making ATP that is used for functions such as muscle contraction and triggering of nerves. Mitochondrial Complex I is a molecular motor that helps to make ATP. “Mitochondrial disease” is often seen when Complex I is not built properly and this results in early childhood death. In this project we will study how Complex I is built and how the mitochondria responds to assembly problems.
The Structure And Organization Of The Mitochondrial Genome In Health And Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$553,646.00
Summary
Mitochondrial DNA (mtDNA) mutations and mitochondrial dysfunction have been associated with a wide range of multi-system human diseases, although much remains to be learnt about molecular mechanisms in the pathogenesis of these diseases. Our goal is to understand how the expression of the mitochondrial DNA is regulated by mtDNA-binding proteins that will allow us to provide important insights into the molecular mechanisms of mitochondrial diseases.