Investigation Of The Function Of The Scaffolding Protein LIN-2/CASK In Cholinergic Synapses
Funder
National Health and Medical Research Council
Funding Amount
$911,656.00
Summary
Scaffolding proteins play vital role in synapses to maintain the function of the nervous system. One important scaffolds LIN-2/CASK has been implicated in autism disorders and has profound effect on synaptic function. Here we investigate the function of LIN-2/CASK and its binding partners in cholinergic synapses to dissect how they regulate synaptic transmission.
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
Tissue Engineering Skeletal Muscle – An Important Link In The Neuro-prosthetic Interface Of Bionic Limbs.
Funder
National Health and Medical Research Council
Funding Amount
$86,733.00
Summary
Limb loss after tumour, trauma, disease or degeneration is a major cause of disability. Use of a patient’s own nerve signals may offer an intuitive method for controlling a robotic limb to regain independence. Delicate nerves are damaged by the electrodes required for recording nerve signals, but muscles tolerate electrodes well. This project aims to create an artificial muscle construct as a bridge between nerve signals and recording electrodes to enable patient control of robotic limbs.