Understanding Mitochondrial DNA Segregation And Transmission.
Funder
National Health and Medical Research Council
Funding Amount
$512,449.00
Summary
We inherit our mitochondrial DNA from our mothers. Mutations to mitochondrial DNA can give rise to severely debilitating diseases that can be passed from one generation to the next. The aims of this application are to understand how mutant mitochondrial DNA is selected for; when it affects energy production during development; and to ensure that certain reproductive strategies do not result in the adverse transmission of mitochondrial DNA that will affect subsequent generations.
Delivering Precision Diagnosis To Patients With Mitochondrial Disease: Using Digital Technologies To Enhance The Delivery Pathway To Provide An Accurate Genetic Diagnosis For Patients With Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,273,553.00
Summary
Mitochondrial disease (MD) is the most common inherited metabolic condition. MD can be diagnosed by using whole genome sequencing (WGS) and enables treatment and accurate family planning. We will create a web-base platform to support the diagnosis and treatment of patients with or suspected to have MD. Using a custom-built web-based platform, telemedicine and automated software we will integrate care by primary care givers and MD experts to deliver a precise genetic diagnosis to our MD patients.
Targeting The Mitochondrial Transcriptome To Treat Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$456,836.00
Summary
Mitochondrial diseases are a diverse group of progressive and debilitating disorders for which there are no effective treatments. Furthermore it is currently impossible to apply gene therapy or RNA interference approaches to understand how mitochondria function or to treat mitochondrial diseases. We are developing a new technology that makes it possible to rationally manipulate mammalian mitochondrial RNAs for the first time, providing a unique approach for mitochondrial disease therapies.
UNDERSTANDING THE BENEFITS AND LIMITATIONS OF METAPHASE II SPINDLE TRANSFER
Funder
National Health and Medical Research Council
Funding Amount
$1,629,373.00
Summary
Mitochondrial DNA (mtDNA) diseases are transmitted from a mother's eggs to her children. However, the levels of affected mtDNA differ amongst her eggs. Consequently, a carrier would not know if the newborn child were to suffer from these diseases. Mitochondrial Donation offers couples the potential to have an unaffected child. We will undertake the most comprehensive study of mitochondrial donation using one of its associated approaches to determine if it produces healthy embryos and offspring.
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.
Improving Oocyte Mitochondrial DNA Copy Number To Enhance Female Reproductive Capacity.
Funder
National Health and Medical Research Council
Funding Amount
$670,867.00
Summary
Eggs with too few copies of mitochondrial DNA either fail to fertilise or arrest during early development. By supplementing eggs with mitochondrial DNA, we have been able to enhance embryo quality and gene expression profiles. By breeding the offspring derived from eggs given mitochondrial supplementation, we will determine if they and their progeny meet normal developmental milestones, regulate the transmission of mitochondrial DNA appropriately, and are healthy and fertile.
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 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.