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 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.
NDI1 Therapy For NADH-Ubiquinone Oxidoreductase Deficiency
Funder
National Health and Medical Research Council
Funding Amount
$575,762.00
Summary
This study will test a new protein therapy that can act as a surrogate for a deficient or defective enzyme called Mitochondrial Complex 1. The deficiency occurs in newborns with defective genes for the proteins that form the enzyme. The defect causes metabolic malfunction in most organs, with patients needing specialist hospital and parental care, but there is no cure yet. We have successfully tested this in the lab but will now test this in our new animal model of the disease.
Physiological Function Of Nedd4-2 In Regulating The Epithelial Sodium Channel
Funder
National Health and Medical Research Council
Funding Amount
$805,797.00
Summary
The epithelial sodium channel (ENaC) controls sodium balance, blood volume and blood pressure. Abnormal regulation of ENaC is associated with conditions such as hypertension and pulmonary oedema. Delineating the regulation of ENaC is vital in understanding disease mechanisms and in defining targets for novel therapeutics for the treatment of disorders that arise due to sodium imbalance. This grant will enable us to understand how ENaC is regulated by a novel protein known as Nedd4-2.