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Understanding The Opposing Roles Of SWI-SNF In The Control Of Gene Programs For Pathological Cardiac Hypertrophy
Funder
National Health and Medical Research Council
Funding Amount
$476,258.00
Summary
Following the success in decoding human genome, i.e. DNA sequence, a major task is to understand how the activity of genes with consequent changes in respective proteins. As proteins are an important component for cell structure and function, such changes in quantity and quality of proteins will play a pivotal role to affect disease development and progression.
Transcriptional Regulatory Complexes Associated With Cardiac Hypertrophy
Funder
National Health and Medical Research Council
Funding Amount
$474,517.00
Summary
Following the success in decoding human genome, i.e. DNA sequence, a major task is to understand how the activity of genes with consequent changes in respective proteins. As proteins are an important component for cell structure and function, such changes in quantity and quality of proteins will play a pivotal role to affect disease development and progression. It has been well known that a group of genes are altered (up or down) in the heart under conditions such as heart muscle overgrowth (ie ....Following the success in decoding human genome, i.e. DNA sequence, a major task is to understand how the activity of genes with consequent changes in respective proteins. As proteins are an important component for cell structure and function, such changes in quantity and quality of proteins will play a pivotal role to affect disease development and progression. It has been well known that a group of genes are altered (up or down) in the heart under conditions such as heart muscle overgrowth (ie hypertrophy), aging or of abnormal beating function. The reasons for such altered gene activity remain poorly understood. Although recent studies from research on genetics or cancer have revealed the important role of the DNA and DNA-bound proteins (called histone) in the control of gene activity, this has rarely been studied in the heart. In this project, we will test our hypothesis that DNA-histone structure is a key factor that control gene activities in ageing and diseased heart. This proposal is supported by our recent findings showing that in the hypertrophied heart, such DNA-histone structure did alter in such a way that fits well with alterations in gene activity. We have planned a series of studies to test this hypothesis in a systematic fashion. A number of sophisticated and cutting-edge techniques and experimental models of heart hypertrophy will be used. We will analyse changes in activities of a number of selected genes in the heart and also analyse changes in DNA-histone structures and chemical modifications at particular regions. These changes will then be linked together. We will also explore the possibility of modulating DNA-histone structure, thereby controlling the degree of cardiac hypertrophy. This project is the joint efforts of scientists with substantial experience in research on gene activity and heart diseases, and is highly likely to generate novel information to and hold significant therapeutic potential.Read moreRead less
Modifying Factors And Phenotype Heterogeneity In Familial Hypertrophic Cardiomyopathy
Funder
National Health and Medical Research Council
Funding Amount
$394,405.00
Summary
Familial Hypertrophic Cardiomyopathy (FHC) is an inherited disorder characterised by abnormal thickening of heart muscle, resulting in clinical symptoms in affected individuals ranging from mild symptoms, to heart failure and sudden death. FHC is the commonest cause of sudden death in individuals aged less than 35 yrs in our community, and is caused by defects in genes (DNA) important in the heart's cellular structure and function. Understanding and identifying the molecular steps involved in ho ....Familial Hypertrophic Cardiomyopathy (FHC) is an inherited disorder characterised by abnormal thickening of heart muscle, resulting in clinical symptoms in affected individuals ranging from mild symptoms, to heart failure and sudden death. FHC is the commonest cause of sudden death in individuals aged less than 35 yrs in our community, and is caused by defects in genes (DNA) important in the heart's cellular structure and function. Understanding and identifying the molecular steps involved in how this defect in our DNA can lead to the clinical features of FHC, is the focus of the research described in this project. A common occurrence in families with FHC is the identification of two affected individuals within the same family (e.g. siblings) and who therefore have the same genetic defect, with variable clinical outcomes. For example, one sibling may have no symptoms and live a normal life, while his-her sibling, may develop severe symptoms, heart failure, and-or early sudden death. The reason for such diversity in clinical features, even amongst individuals with the same genetic defect, most likely reflects secondary modifying factors, e.g. genetic and-or environmental factors which modulate the expression of the primary FHC-causing gene defect. This project will focus on identifying and studying such modifying factors. One aspect of the project will focus on the identification of a genetic modifier which has been shown to exist in a genetically-engineered mouse model of FHC. A second aspect of the proposed research will focus on potential environmental factors, including pharmacological agents which may prevent disease progression, dietary factors, e.g. caffeine intake, and lifestyle factors , e.g. exercise. Through these studies, it is hoped that key molecules and important pathogenic mechanisms will be identified, leading to the development of potentially new therapies, to both treat, and ultimately prevent or cure this inherited cardiac disorder.Read moreRead less
The Role Of Intersectin-1 In Endocytic Anomalies: Implications For Down Syndrome And Alzheimer's Disease
Funder
National Health and Medical Research Council
Funding Amount
$510,500.00
Summary
Individuals with Down syndrome have three copies of human chromosome 21, rather than the normal two. We have discovered a gene called Intersectin-1, located on human chromosome 21, that is expressed at higher levels than normal in individuals with Down syndrome. Intersectin-1 has a role in endocytosis, a process whereby cells take up molecules from the outside. Endocytosis occurs in all cells but is highly specialised in the brain where chemical transmitters are released and then rapidly recover ....Individuals with Down syndrome have three copies of human chromosome 21, rather than the normal two. We have discovered a gene called Intersectin-1, located on human chromosome 21, that is expressed at higher levels than normal in individuals with Down syndrome. Intersectin-1 has a role in endocytosis, a process whereby cells take up molecules from the outside. Endocytosis occurs in all cells but is highly specialised in the brain where chemical transmitters are released and then rapidly recovered by endocytosis in a process enabling neurones to pass signals to one another. A disturbance in endocytosis has been reported as the earliest hallmark of Alzheimer's disease in both non-Down syndrome and Down syndrome individuals. This disturbance is characterised by the presence of enlarged endosomes (small packages in neuronal cells containing chemical neurotransmitters formed during endocytosis). These enlarged endosomes are present long before the characteristic plaques of Alzheimer's disease appear. Since all individuals with Down syndrome develop Alzheimer's-like neuropathology, there must be a common disease mechanism that can be traced to the extra gene dosage from chromosome 21. We propose that a malfunctioning of Intersectin-1 is this common mechanism and we aim to test our hypothesis by the generation and analysis of mouse models of disrupted endocytosis.Read moreRead less
The Molecular Mechanisms Of Anabolic Androgen Actions In Skeletal Muscle
Funder
National Health and Medical Research Council
Funding Amount
$487,500.00
Summary
We are studying the role of male sex hormones, androgens, in controlling muscle function. Muscle wasting occurs in a variety of disorders, including cancer, burns and trauma, and also during normal ageing. Treatment with androgens helps prevent muscle wasting, and causes increased muscle size, although current therapies can also have side effects. Little is known about how androgens prevent wasting and promote muscle growth. Therefore, we propose to study the actions of male sex hormones in musc ....We are studying the role of male sex hormones, androgens, in controlling muscle function. Muscle wasting occurs in a variety of disorders, including cancer, burns and trauma, and also during normal ageing. Treatment with androgens helps prevent muscle wasting, and causes increased muscle size, although current therapies can also have side effects. Little is known about how androgens prevent wasting and promote muscle growth. Therefore, we propose to study the actions of male sex hormones in muscle. We will study the growth of mouse muscle cells in culture, and measure their rate of growth when treated with androgens. All cells contain certain factors that control their growth and replication, and we will test whether androgens activate these factors to increase growth. We will also study the effect of androgens on muscle in mice, to investigate complex effects that only occur in real muscle. We will neuter male mice, which causes muscle wasting. Neutered mice will then be treated with androgens or placebo, and we will compare the muscle growth effect of androgen treatment versus placebo. We will measure muscle strength, size, and the number of muscle cells in treated and placebo mice. We will also see if the effects of androgen require a particular protein, the androgen receptor, which acts as a lock-key mechanism in cells, to allow them to respond to androgens. We will make a strain of mouse with a non-functional version of the androgen receptor only in muscle cells. This will determine if the muscle growth effects of androgens occur through a direct action on muscle, or indirectly through acting on other tissues in the body. This information will ultimately allow us to design more targeted androgen therapies for muscle wasting, that act only on muscle.Read moreRead less
Molecular And Clinico-pathological Investigation Of Congenital Myopathies
Funder
National Health and Medical Research Council
Funding Amount
$743,290.00
Summary
Congenital myopathies are inherited disorders causing muscle weakness from birth. Some types lead to early death of the affected child, while others are compatible with life to adulthood. Like any disease of childhood, the congenital myopathies cause considerable trauma to the families concerned. Couples at risk of having another affected child frequently wait for prenatal diagnosis to become available for their particular disease before attempting to have further children. However, prenatal dia ....Congenital myopathies are inherited disorders causing muscle weakness from birth. Some types lead to early death of the affected child, while others are compatible with life to adulthood. Like any disease of childhood, the congenital myopathies cause considerable trauma to the families concerned. Couples at risk of having another affected child frequently wait for prenatal diagnosis to become available for their particular disease before attempting to have further children. However, prenatal diagnosis is only possible once the gene causing a disorder and the mutation in an individual family are identified. In the past, the Laboratories collaborating in this project, the Molecular Neurogenetics Laboratory, Australian Neuromuscular Research Institute, Perth, and the Neurogenetics Research Unit, New Children s Hospital, Sydney, have identified disease genes for congenital myopathies. Prenatal diagnosis is now possible for families whose disease-causing mutation is identified. However the genetic cause of many of the congenital myopathies remains unknown. DNA and other samples have been sent to the Laboratories from around the world, making us reference centres for congenital myopathy research. Part one of the project is to study these and Australasian samples, to identify other congenital myopathy genes. This will help families who currently cannot have prenatal diagnosis. Finding the genes also increases understanding of the diseases by clarifying which proteins are involved. In part two of the project we shall study the mutated proteins, to try to unravel how the gene mutations cause the diseases. The third part of the project is to reevaluate the highly variable muscle pathology in congenital myopathies in cases where the disease gene is now known, in order to investigate genotype-phenotype correlations. Understanding the pathologic basis of the congenital myopathies will ultimately allow us to begin to think rationally about possible treatments.Read moreRead less
Structural And Functional Consequences Of Left Ventricular Hypertrophy Regression.
Funder
National Health and Medical Research Council
Funding Amount
$293,036.00
Summary
Left ventricular hypertrophy (LVH) is a thickening of the heart muscle walls that occurs in a variety of cardiovascular diseases, including high blood pressure, coronary artery disease, cardiac valve disorders and heart dilatation. The presence of LVH increases the risk of developing heart attacks, heart failure and death. Treatment of these disorders is a major component of our escalating health-care costs. Consequently, reversal of LVH may have significant benefits to individual patients and s ....Left ventricular hypertrophy (LVH) is a thickening of the heart muscle walls that occurs in a variety of cardiovascular diseases, including high blood pressure, coronary artery disease, cardiac valve disorders and heart dilatation. The presence of LVH increases the risk of developing heart attacks, heart failure and death. Treatment of these disorders is a major component of our escalating health-care costs. Consequently, reversal of LVH may have significant benefits to individual patients and society in general. We propose to develop a mouse model of an inherited form of LVH that is caused by gene mutations in heart muscle proteins. This model will enable us to study in detail the disease processes that cause LVH and the effects of reversing LVH. This information will be invaluable for determining the best ways of treating patients with LVH.Read moreRead less
Inositol Polyphosphate 1-phosphatase, A Novel Anti-hypertrophic Factor
Funder
National Health and Medical Research Council
Funding Amount
$399,750.00
Summary
Growth of the heart muscle cells occurs after heart attack and in people with high blood pressure or who suffer from diseases such as diabetes. Such growth leads eventually to the development of heart failure, a major cause of death and disability in western societies. We have identified a novel inhibitor of this growth, an enzyme that destroys a signalling intermediate called inositol(1,4)bisphosphate (or IP2). We now need to define how reduction in IP2 reduces growth and whether it provides a ....Growth of the heart muscle cells occurs after heart attack and in people with high blood pressure or who suffer from diseases such as diabetes. Such growth leads eventually to the development of heart failure, a major cause of death and disability in western societies. We have identified a novel inhibitor of this growth, an enzyme that destroys a signalling intermediate called inositol(1,4)bisphosphate (or IP2). We now need to define how reduction in IP2 reduces growth and whether it provides a useful target for therapy.Read moreRead less
Value Of Central Blood Pressure For GUIDing ManagEment Of Hypertension (BP GUIDE Study)
Funder
National Health and Medical Research Council
Funding Amount
$339,553.00
Summary
A pressure pulse may be felt at the wrist with every heart beat. New technology allows the analysis of this pulse and measurement of blood pressure (BP) at the heart (central BP) . This information may help doctors improve the decision making process regarding a patient's risk related to BP as well as the effect of drug treatment. The study aims to test this theory. It is expected that the new technology will improve the way people with high BP are identified and treated.