Identification Of Genetic Defects In Muscle Contractile Proteins
Funder
National Health and Medical Research Council
Funding Amount
$167,167.00
Summary
Congenital myopathies are a group of mostly inherited disorders which cause muscle weakness from birth. Some congenital myopathies can lead to the early death of the affected child, while other types are compatible with reaching adulthood. Like any diseases of childhood, the congenital myopathies cause great trauma to the families with an affected child. Couples at risk of having another affected child often opt to wait for prenatal diagnosis to become available for their particular disease befo ....Congenital myopathies are a group of mostly inherited disorders which cause muscle weakness from birth. Some congenital myopathies can lead to the early death of the affected child, while other types are compatible with reaching adulthood. Like any diseases of childhood, the congenital myopathies cause great trauma to the families with an affected child. Couples at risk of having another affected child often opt to 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. Identifying the disease-causing mutation may help the common feelings of guilt in the parents if it can be shown that the affected child has a new mutation, and there is nothing the parents could have done to stop their child having the disease. In the past, this Laboratory, the Molecular Neurogenetics Laboratory at the Australian Neuromuscular Research Institute, amongst others, has identified disease genes for the congenital myopathies. Prenatal diagnosis is now possible for those families whose disease-causing mutation has been identified. However the genetic cause of most of the congenital myopathies remains unknown. This Laboratory has become a reference centre for genetic studies of the congenital myopathies, especially the major form called nemaline myopathy. DNA samples have been sent here from around the world for study. This project aims to study this DNA, to identify other disease genes causing the congenital myopathies in order to help the families at risk with these conditions who currently cannot have prenatal diagnosis. Finding the genes also increases understanding of the diseases. It clarifies which proteins are involved. It allows studies of the mutated proteins to be undertaken. It makes it possible to understand how the diseases arise allowing future treatment of the conditions.Read moreRead less
Investigation Of Childhood Onset Distal Myopathy Myosin Variants
Funder
National Health and Medical Research Council
Funding Amount
$235,500.00
Summary
This project aims to continue the research of this laboratory into the distal myopathies, a group of largely enigmatic genetic disorders, which most severely affect selected distal limb muscles, in other words mostly hand and foot muscles. The project has two parts. The first part aims to determine what causes the childhood onset distal myopathy which we first identified in a West Australian family. We localised the disease gene in this family to chromosome 14 in the first linkage of a distal my ....This project aims to continue the research of this laboratory into the distal myopathies, a group of largely enigmatic genetic disorders, which most severely affect selected distal limb muscles, in other words mostly hand and foot muscles. The project has two parts. The first part aims to determine what causes the childhood onset distal myopathy which we first identified in a West Australian family. We localised the disease gene in this family to chromosome 14 in the first linkage of a distal myopathy and researching this family and similar families from Europe we may have identified the gene. This project aims to prove that the candidate disease gene is the disease gene. The second part of the project aims to investigate another unknown distal myopathy in another Australian family, to try to localise and identify this disease gene.Read moreRead less
Characterisation Of A Novel Direct Electrochemical Chip As A Biosensor And Tool For Studying Redox-sensitive Proteins
Funder
National Health and Medical Research Council
Funding Amount
$144,500.00
Summary
Biosensors use biomolecules to detect a chemical event. They are becoming important for the rapid and reliable measurement of the concentrations of molecules in fluids. In human medicine they will be of great use to general practitioners and patients for instantaneous read outs of concentrations of many different biological molecules. How well a biosensor responds depends on the method in which the biomolecule is immobilised to a surface and the signal detected. We have made a significant advanc ....Biosensors use biomolecules to detect a chemical event. They are becoming important for the rapid and reliable measurement of the concentrations of molecules in fluids. In human medicine they will be of great use to general practitioners and patients for instantaneous read outs of concentrations of many different biological molecules. How well a biosensor responds depends on the method in which the biomolecule is immobilised to a surface and the signal detected. We have made a significant advance in biosensing capabilities using a recombinant protein (thioredoxin) and demonstrated the improvement that is possible by (i) immobilising the protein in a highly oriented way and (ii) using a sensitive electrical signal to monitor the response. Here we will undertake more comprehensive testing by extending the number of proteins to include the 4 major classes of redox-sensitive biomolecules (proteins) in the body. This will enable us to establish the broad application of our methods and substantially improve our ability to commercialize our discoveries.Read moreRead less