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.
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.
Gene Discovery And Functional Studies To Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.
Funder
National Health and Medical Research Council
Funding Amount
$381,343.00
Summary
Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development ....Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development of effective therapies.Read moreRead less
Mitochondria are both the powerhouses and the poison cupboard of our cells. They have evolved from bacteria and still possess the ability to grow and divide. Unregulated mitochondrial division is seen in dying cells and in cells from patients with neurodegenerative diseases. We have identified new molecules involved in mitochondrial division and are investigating how they function in normal and unhealthy cells.
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.
Uncovering The Molecular Mechanisms Behind Charcot-Marie-Tooth Disease
Funder
National Health and Medical Research Council
Funding Amount
$320,967.00
Summary
Charcot-Marie-Tooth disease (or CMT) is one of the most common disorders of the nervous system, affecting the normal function of the limbs and causing lifelong disabilities. There is currently no cure for CMT. The aim of this research is to develop a new model of CMT, which will allow us to uncover novel information about how the disease develops. This research will provide a better understanding of the disease and therefore provide valuable insight for the future generation of therapeutics.
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.
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.
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.
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.