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.
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.
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.
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.
Mitochondrial Damage Following Fetal Hypoxia Or Birth Asphyxia: Using Creatine To Preserve Mitochondrial Function
Funder
National Health and Medical Research Council
Funding Amount
$838,726.00
Summary
There is a need for a therapy that can be given before a mother gives birth to protect the baby should ‘oxygen starvation’ threaten the baby’s brain and other organs such as the heart, kidney, lungs, and the ability to breathe properly. We are suggesting that an increased intake of creatine is a very effective treatment against this threat, and its proven safety and ease of use recommends it for wide application, particularly in countries where the access to medical resources is poor.
Apoptosis Inducing Factor And The Progression Of Diabetic Nephropathy
Funder
National Health and Medical Research Council
Funding Amount
$496,756.00
Summary
There has been a dramatic increase in the rates of diabetic kidney disease. It now affects more than 400,000 Australians and places these individuals at an extremely high risk of death from a heart attack or stroke. This research is focusing on the powerstations of the cell, the mitochondria, which are responsible for energy production from the food we eat. We aim to investigate new novel targets to prevent the dysfunction of these power stations, with a view to discovering a new therapy for dia ....There has been a dramatic increase in the rates of diabetic kidney disease. It now affects more than 400,000 Australians and places these individuals at an extremely high risk of death from a heart attack or stroke. This research is focusing on the powerstations of the cell, the mitochondria, which are responsible for energy production from the food we eat. We aim to investigate new novel targets to prevent the dysfunction of these power stations, with a view to discovering a new therapy for diabetic kidney disease.Read moreRead less
Personalised Medicine For Mitochondrial Disorders: Targeting Pathogenic Mechanisms
Funder
National Health and Medical Research Council
Funding Amount
$1,770,213.00
Summary
Mitochondria are our cellular power plants that burn sugars, fats and proteins to generate energy. Each week in Australia a child is born with a mitochondrial disorder. Many of these children die in the first years of life and most suffer from severe disease, particularly affecting their brain and/or heart. We will use stem cell models to better understand the basic biology of these disorders and to develop targeted therapies to improve the outcomes for affected patients.