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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.
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
Effect Of High Dose Infant Fish Oil Supplementation And FADS 1 & 2 Genetic Polymorphisms On Cognitive Development And School Giftedness
Funder
National Health and Medical Research Council
Funding Amount
$325,938.00
Summary
This project will investigate the influence of fish oil supplementation during the first six months of life on intelligence, language, behaviour and school performance at age six. We will also investigate how genetic differences in fish oil metabolism can impact upon these relationships. The findings will enhance our knowledge pertaining to the potential benefits of fish oil on cognitive development, and will inform future practice regarding the high dose fortification of infant formula.
The Role Of Assembly Factors In Mitochondrial Complex I Biogenesis And Their Defects In Disease.
Funder
National Health and Medical Research Council
Funding Amount
$608,600.00
Summary
Complex I is the first complex of the mitochondrial respiratory chain that is involved in producing most of the cell's energy. Mitochondria diseases occur ~1-5,000 live births with defects in Complex I being the most prevalent, often leading to death. Complex I defects have also been implicated in common disease including Parkinson s disease. This study will provide important new information into how Complex I is built and what goes wrong to cause disease.