Systems Approaches To Understanding Mitochondrial Function And Dysfunction In Disease
Funder
National Health and Medical Research Council
Funding Amount
$431,000.00
Summary
Mitochondria produce the energy for our bodies. Defects in this process cause mitochondrial disease, which affects at least 1/4300 people. Diagnosis is often inconclusive and few if any effective treatments exist. State of the art CRISPR gene-editing tools will be used to make disease models mimicking the different types of mitochondrial disease. These will be used to understand how mitochondria function, identify new disease genes and develop new drugs.
Assembly Of Mitochondrial Respiratory Chain Complexes And Their Defects Associated With Disease.
Funder
National Health and Medical Research Council
Funding Amount
$413,431.00
Summary
Mitochondrial “respiratory chain complexes are multi-subunit assemblies that function to produce most of our cellular energy. Defects in the assembly of these complexes can result in mitochondrial disease, including infant death. The assembly of the respiratory complexes is a complicated procedure and the mechanisms involved in disease remain elusive. This work will aid in our understanding of how these protein complexes are built and how defects in their assembly can cause disease.
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.
The Role Of Accessory Subunits And Assembly Factors In The Biogenesis Of Respiratory Chain Complex I
Funder
National Health and Medical Research Council
Funding Amount
$569,987.00
Summary
The mitochondrial respiratory chain produces most of the energy required for our cells to grow and function. Complex I is the first enzyme of this chain and its defects are the most prevalent cause of mitochondrial disease, which often results in infant fatality. Defects in complex I have also been associated with Parkinson's disease and oxidative stress. This study will provide important new information into how complex I is built and what goes wrong to cause disease.
Characterising Complex I Function And Dysfunction In Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$316,449.00
Summary
The cells in our body produce energy in power plants called “mitochondria”. Mitochondrial disease affects 1 in 5000 live births. Currently there is no cure, but understanding how the genes mutated in mitochondrial disease work is an important step to finding one. Previous research relied on patient samples; however we will employ new technologies allowing us to rapidly model mitochondrial disease in a laboratory setting.
The Role Of Reduced Lung Volume In The Pathogenesis Of Asthma.
Funder
National Health and Medical Research Council
Funding Amount
$275,095.00
Summary
Asthma is a disease for which the cause is not understood. This project is designed to examine the possibilty that breathing at low volumes causes an abnormality in the smooth muscle of the airways that predisposes them to the airway hyperresponsiveness of asthma.
Cytosolic Oxidative Disturbances As A Source Of Mitochondrial Dysfunction In Diabetic Nephropathy
Funder
National Health and Medical Research Council
Funding Amount
$505,786.00
Summary
There is a critical need to identify new therapies for the growing number of patients with diabetic kidney disease. Current medicines only retard progressive disease. Our studies investigate defects in the power houses of the cell, the mitochondria. These defects cause generation of toxic free oxygen radicals which eventually starve the cell of energy production. Therefore, reversal of mitochondrial defects in diabetic kidney disease may be a novel therapeutic target.
OXPHOS Upregulation To Preserve Vision In Leber's Hereditary Optic Neuropathy
Funder
National Health and Medical Research Council
Funding Amount
$496,874.00
Summary
Leber's Hereditary Optic Neuropathy (LHON) is a devastating blinding disease that preferentially affects young men. Sufferers have normal vision until teenage years or their twenties when a rapid loss of vision occurs that results in permanent blindness. It is caused by genetic changes in the mitochondrial DNA that we inherit from our mothers. The mitochondria are the cells' energy generators. We aim to use molecules similar to female hormones to boost energy as a new treatment to preserve visio ....Leber's Hereditary Optic Neuropathy (LHON) is a devastating blinding disease that preferentially affects young men. Sufferers have normal vision until teenage years or their twenties when a rapid loss of vision occurs that results in permanent blindness. It is caused by genetic changes in the mitochondrial DNA that we inherit from our mothers. The mitochondria are the cells' energy generators. We aim to use molecules similar to female hormones to boost energy as a new treatment to preserve vision in at-risk LHON individuals.Read moreRead less