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Characterisation Of A Novel Human Neuromuscular Disease Associated With Deficiency Of The Syntrophins And Dystrobrevin.
Funder
National Health and Medical Research Council
Funding Amount
$284,069.00
Summary
The muscular dystrophies are a group of hereditary muscle diseases which can result in severe and progressive muscle weakness. Children with muscular dystrophy have significant and worsening disabilities; many are unable to walk and, in severe cases, the weakness impairs the muscles of breathing resulting in death at an early age. The more common muscular dystrophies present in early childhood; however some forms of muscular dystrophy are so severe that muscle weakness is obvious at birth, affec ....The muscular dystrophies are a group of hereditary muscle diseases which can result in severe and progressive muscle weakness. Children with muscular dystrophy have significant and worsening disabilities; many are unable to walk and, in severe cases, the weakness impairs the muscles of breathing resulting in death at an early age. The more common muscular dystrophies present in early childhood; however some forms of muscular dystrophy are so severe that muscle weakness is obvious at birth, affected babies are never able to breathe adequately, and die during the first weeks of life. No specific treatment is currently available. Until recently the underlying gene and protein abnormalities resulting in the majority of cases of muscular dystrophy were unknown and hence definitive diagnosis and prenatal diagnosis was not possible. We have recently identified deficiency of a group of muscle proteins, the syntrophins and dystrobrevin, in 15 children with severe weakness, in whom the cause was previously unknown. This group of patients represent the first examples of a novel neuromuscular disorder. We will now identify the disease-causing genetic mutations in these patients and determine how abnormalities in these muscle proteins lead to muscle weakness and degeneration. This research will have immediate application to clinical practice as we will be able to give the childrens' families accurate information about the risk to future offspring and offer prenatal diagnosis. In addition, it will provide new and important information concerning the normal function of human skeletal muscle, which can be used to develop therapies for affected patients.Read moreRead less
Molecular Pathology Of Collagen VI-related Muscular Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$574,500.00
Summary
The inherited muscular dystrophies, characterised by progressive muscle weakness and wasting, are a significant cause of physical disability. Muscle cells are anchored into the surrounding tissue by a chain of interacting proteins. Proteins inside the cell link to cell surface proteins, which in turn link to extracellular matrix proteins. If any one of the links is broken by a mutation, the connection is lost and muscle disease results. Most studies to date have focused on the role of intracellu ....The inherited muscular dystrophies, characterised by progressive muscle weakness and wasting, are a significant cause of physical disability. Muscle cells are anchored into the surrounding tissue by a chain of interacting proteins. Proteins inside the cell link to cell surface proteins, which in turn link to extracellular matrix proteins. If any one of the links is broken by a mutation, the connection is lost and muscle disease results. Most studies to date have focused on the role of intracellular and cell surface proteins, and relatively little attention has been paid to the extracellular matrix proteins. Mutations in the extracellular matrix protein collagen VI have been found in patients with Bethlem myopathy and Ullrich muscular dystrophy. These mutations tell us that collagen VI plays a critical role in muscle but we don't know how the mutations break the link between the cell and the matrix or why they cause a muscle disease. We will look for collagen VI mutations in our group of new Bethlem myopathy and Ullrich patients, and perform detailed studies on the effect of the mutations on collagen VI production, structure and function. These studies will allow us to provide accurate diagnosis and genetic counselling for affected individuals and begin to tell us how the mutations break the cell-matrix link. Mutations in other extracellular matrix proteins that interact with collagen VI are also likely to cause muscular dystrophies. One of these proteins is biglycan. We know from studies in mice that when biglycan is missing the mice have muscular dystrophy, so it is likely that some human muscular dystrophy patients have biglycan mutations. We will look for biglycan mutations in patients with muscular dystrophies and perform detailed studies to try to understand the effect of the mutations on the biglycan protein. This application brings together two groups with complementary expertise, to further our understanding of the basis of muscular dystrophies.Read moreRead less
Role Of Synaptogenesis In Developmental Motoneuron Cell Death
Funder
National Health and Medical Research Council
Funding Amount
$361,650.00
Summary
Naturally occurring cell death is an important and necessary event that shapes the developing embryo. It occurs in all organs of the developing body. In the nervous system about 50% of all neurons die at a time when they are making contact with one another or with their target organs. The underlying mechanisms that drive programmed neuronal cell death are not known. One possibility is that the formation of neuronal contacts (synapses) with other neurons and target cells determines the fate of a ....Naturally occurring cell death is an important and necessary event that shapes the developing embryo. It occurs in all organs of the developing body. In the nervous system about 50% of all neurons die at a time when they are making contact with one another or with their target organs. The underlying mechanisms that drive programmed neuronal cell death are not known. One possibility is that the formation of neuronal contacts (synapses) with other neurons and target cells determines the fate of a neuron. The connections of motor neurons with muscle during this period of developmental neuronal cell death is the best model to examine this phenomenon. In this grant we are in an exciting position to be able to address what causes neuronal cell death, as we have a number of mice that lack key molecules needed for the formation of specializations that allow neuronal contacts to be made between motor neurons and their muscle, and with other neurons within the spinal cord. By examining the function of motor neurons, counting them and screening for molecular changes in these mice, we will be able to dissect out the mechanism of how a motor neurons' fate is determined during the period of programmed cell death. The outcomes of this research will enable us to understand how the nervous system is shaped during development and will increase our knowledge about the basis of adult neurodegenerative diseases. For example, the pathology of Alzheimer's is characterised by a breakdown in neuronal connections that ultimately result in neuronal death and a loss of thought processes (cognition).Read moreRead less
Pathogenic Mechanisms In Inflammatory Demyelinating Neuropathies
Funder
National Health and Medical Research Council
Funding Amount
$378,750.00
Summary
The causes and disease mechanisms of inflammatory neuropathy remain mostly unknown. Although treatments have been developed (intravenous immunoglobulin and plasma exchange) they are extremely expensive, non-specific in action, beyond the means of the worlds most populous nations and a considerable burden to health resources in developed nations. These studies aim to understand better the mechanism of disease production so that better and more affordable therapy can be developed. In our current g ....The causes and disease mechanisms of inflammatory neuropathy remain mostly unknown. Although treatments have been developed (intravenous immunoglobulin and plasma exchange) they are extremely expensive, non-specific in action, beyond the means of the worlds most populous nations and a considerable burden to health resources in developed nations. These studies aim to understand better the mechanism of disease production so that better and more affordable therapy can be developed. In our current grant we have made a most important breakthrough - which is that antibodies to a major structural protein of the myelin sheath are responsible for disease production in one subgroup of patients. We plan to search for other antigenic targets in other patient groups and to see whether we can regulate the disease by new mechanisms which would be cheaper and more effective.Read moreRead less
We will use genetically engineered mice to study brain circuitry in an effort to understand the anatomical basis of Huntington's disease and a number of other more common degenerative brain diseases similar to Parkinson's disease. We will look at the brain in detail to decipher how the injured brain repais itself by making new connections and by producing new cells. We will also study supporting cells in the brain to determine if they play a beneficial role in this injury repair process.
The Role Of Antibody In Inflammatory Demyelinating Neuropathy
Funder
National Health and Medical Research Council
Funding Amount
$218,566.00
Summary
The causes and disease mechanism of inflammatory neuropathy remain unknown. Although treatments have been developed (intravenous immunoglobulin and plasma exchange) they are extremely expensive and non specific in action and beyond the means of the worlds most populous nations. These studies plan to illuminate the mechanism of disease production so that better and more affordable therapy can be developed. We have shown that antibodies which cause nerve damage are present in patients serum. Antib ....The causes and disease mechanism of inflammatory neuropathy remain unknown. Although treatments have been developed (intravenous immunoglobulin and plasma exchange) they are extremely expensive and non specific in action and beyond the means of the worlds most populous nations. These studies plan to illuminate the mechanism of disease production so that better and more affordable therapy can be developed. We have shown that antibodies which cause nerve damage are present in patients serum. Antibodies bind to specific target molecules and our work is close to identifying that target on nerve. We also plan to study how antibody leaks into nerve. This knowledge should allow more specific and effective treatment to be developed.Read moreRead less
Molecular Mechanisms That Help Organise Effective Synaptic Transmission.
Funder
National Health and Medical Research Council
Funding Amount
$555,825.00
Summary
This study will test the idea that adhesion molecules alpha4- and beta2-laminin are needed for proper development and function of motor nerve - muscle connections. This study will provide insights into how such molecules control effective nerve-muscle communication, in both health and disease. We also believe that our results will provide the basic knowledge needed for identifying pharmacological targets that could improve such connections, and to promote reconnections between nerve and muscle.
The Role Of Central And Peripheral Synaptic Activity In The Developmental Death Of Motoneurons.
Funder
National Health and Medical Research Council
Funding Amount
$463,145.00
Summary
Information processing in the nervous system relies on the effective communication between neurons and their target cells which make up our neuronal circuitry. At the centre of all this is the synapse, the specialized contact between a neuron and its target cell, be it another neuron in the brain or a target organ such as skeletal muscle. Our primary goal is to determine how the formation of synaptic connections during development regulates neuronal survival. In this proposal we have focussed on ....Information processing in the nervous system relies on the effective communication between neurons and their target cells which make up our neuronal circuitry. At the centre of all this is the synapse, the specialized contact between a neuron and its target cell, be it another neuron in the brain or a target organ such as skeletal muscle. Our primary goal is to determine how the formation of synaptic connections during development regulates neuronal survival. In this proposal we have focussed on the neuromotor system as it is a well characterised part of the nervous system. During development, 50% of motoneurons die at a time when they are making contact with skeletal muscle, and when contacts onto motoneurons by other neurons are being established. We believe that the formation of effective synaptic contacts onto motoneurons, as well as connections by motoneurons onto muscle are the key regulators of motoneuron survival. We are in a position to be able to address what regulates motoneuron death; as we have a number of mice which lack key molecules needed for the formation of specialisations that allow neuronal contacts to be made between motor neurons and their muscle, and with other neurons within the spinal cord. By examining the function of motoneurons, counting them and screening for molecular changes in these mice, we will be able to dissect out the mechanism of how a motoneurons' fate is determined during developmental motoneuron death. This research could help in developing strategies aimed at improving neuronal connections to improve neuronal viability. Our research will have important implications for our understanding about the basis of adult neuro-degenerative diseases, such as motor neuron disease and Alzheimer's, which are in part characterised by a molecular breakdown in neuronal connections that ultimately result in neuronal death.Read moreRead less
Flecainide In Amyotrophic Lateral Sclerosis - A Neuroprotective Strategy
Funder
National Health and Medical Research Council
Funding Amount
$593,275.00
Summary
This project will provide clinical trial information related to the potential neuroprotective properties of flecainide in motor neurone disease patients. A potential therapeutic response would provide impetus for a larger scale, multi-centre clinical trial. In addition to providing information about potential mechanisms of neurodegeneration and their treatment, new quantifiable measures will be further developed to objectively monitor MND patients in a clinical trials setting.