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Dysferlinopathy: A Genetic Disease Sheds Light On Membrane Repair For Muscle And Cardiac Injury
Funder
National Health and Medical Research Council
Funding Amount
$782,806.00
Summary
Muscles are damaged all of the time, as we stretch and contract them, but we don't fully understand how they repair themselves. We are studying the molecular steps taken by a muscle cell to repair membrane damage. Our research will provide valuable insights into how to treat muscular dystrophy and other conditions characterised by membrane damage to cells, such as heart attack and stroke.
Dysferlin Coordinates Membrane Repair For Skeletal And Cardiac Injury
Funder
National Health and Medical Research Council
Funding Amount
$459,270.00
Summary
Muscles are damaged all of the time, as we stretch and contract them, but we don't fully understand how they repair themselves. We are studying the molecular steps taken by a muscle cell to repair membrane damage. Our research will provide valuable insights into how to treat muscular dystrophy and other conditions characterised by membrane damage to cells, such as heart attack and stroke.
Improving Diagnosis, Treatment And Prevention Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$487,891.00
Summary
The goal of this work is to use state-of-the-art research methods to improve clinical practice and the health outcomes for patients with mitochondrial disease and other neurological disorders. Professor Sue will undertake an integrated program involving clinical studies, bioinformatics, tissue culture and in vitro cell modelling to discover better ways to treat mitochondrial disease and other neurological diseases due to impaired mitochondrial function.
Carolyn Sue is a neurologist and scientist investigating the role of disturbed mitochondrial function in human disease. Mitochondria play a key role in maintaining energy levels and the cell’s health. When this function is impaired, cells may degenerate or die, and thus cause human disease. Dr Sue’s research is aimed at seeking improved treatments to treat mitochondrial disease and to further understanding about how brain cells degenerate when the mitochondria fail.
Mitophagy And Mitochondrial Biogenesis In Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$307,946.00
Summary
Mutations in mitochondrial DNA and nuclear encoded mitochondrial genes cause mitochondrial disease, with one in every 250 Australians carrying a pathogenic mutation. In this project, we will further define the basic function of mitophagy (process that results in the recycling of defective mitochondria) and mitochondrial biogenesis (production of new mitochondria). Additionally, experimentally induced enhancement of mitophagy or biogenesis will be assessed as a potential therapy for patients with ....Mutations in mitochondrial DNA and nuclear encoded mitochondrial genes cause mitochondrial disease, with one in every 250 Australians carrying a pathogenic mutation. In this project, we will further define the basic function of mitophagy (process that results in the recycling of defective mitochondria) and mitochondrial biogenesis (production of new mitochondria). Additionally, experimentally induced enhancement of mitophagy or biogenesis will be assessed as a potential therapy for patients with mitochondrial disease.Read moreRead less
ALS4 Mice Show TDP-43 Protein Mislocalization In Motor Neurons Characteristic Of Sporadic ALS Patients; Suggesting This Model Is Likely To Reveal Important Patho-mechanistic Disease Insights
Funder
National Health and Medical Research Council
Funding Amount
$108,466.00
Summary
SETX gene mutations cause an inherited motor neurone disease (MND) known as ALS4. Our current understanding of MND was revolutionized by the discovery that a protein known as TDP-43 is the main component of protein accumulations found in dying human motor neurones. We have generated a unique mouse model of ALS disease that will be useful for research purposes, but may also prove effective for drug testing.
Investigating Mechanisms Of Dementia And Motor Neuron Disease
Funder
National Health and Medical Research Council
Funding Amount
$303,924.00
Summary
Dementia and motor neuron disease (MND) are both neurodegenerative diseases which have devastating impacts on patients and their families. My research investigates the biochemical mechanisms involved in these diseases. Pathology in the nervous system of dementia and MND patients contains a protein called ‘TDP-43’, but it remains unknown how this causes disease. This project will therefore explore the effects of TDP-43 malfunction, which will provide insight into potential therapeutic strategies.