Mitochondrial Enzyme Regulates RNA Metabolism In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$67,381.00
Summary
Mitochondria are microscopic, energy producing machines that are found in all human cells. Mitochondria contain a small set of genes that must work properly to make the energy our bodies require for health. Defects in the expression of genes coding for mitochondrial proteins causes debilitating diseases for which there are effective treatments. I will investigate how a mitochondrial protein whose dysfunction is known to cause a metabolic disease regulates mitochondrial gene expression.
The Role Of Mitochondrial Dysfunction In Metabolic Disease
Funder
National Health and Medical Research Council
Funding Amount
$61,383.00
Summary
We have previously found that PTCD1 can regulate mitochondrial gene expression and metabolism in cells (Mercer et al., 2011 and Lopez Sanchez et al., 2011). There is still much to learn about the mitochondria and their DNA. Charactering PTCD1, a protein that has previously seen little research, will enable us to elucidate the role of this protein in mitochondria and energy metabolism in an effort to increase understanding of obesity and type 2 diabetes.
Recognising And Improving Management Outcomes Of Adult Patients With Mitochondrial Diseases
Funder
National Health and Medical Research Council
Funding Amount
$87,199.00
Summary
Mitochondrial diseases comprise the most common diagnostic group amongst neuromuscular and neurogenetic diseases, but are not well known in the community, with no established standards of management. The Study aims to devise strategies to deliver better care for patients with mitochondrial diseases, from their screening and diagnosis, continued monitoring and prognostication, to the potential treatment and promotion of a better management paradigm; as well as facilitation of ongoing research int ....Mitochondrial diseases comprise the most common diagnostic group amongst neuromuscular and neurogenetic diseases, but are not well known in the community, with no established standards of management. The Study aims to devise strategies to deliver better care for patients with mitochondrial diseases, from their screening and diagnosis, continued monitoring and prognostication, to the potential treatment and promotion of a better management paradigm; as well as facilitation of ongoing research into the management of patients with these diseases.Read moreRead less
The Neuro-ophthalmological Manifestations Of Human Mitochondrial Diseases.
Funder
National Health and Medical Research Council
Funding Amount
$100,675.00
Summary
Human mitochondrial diseases often result in neuro-ophthalmological abnormalities. We aim to examine a cohort of patients with mitochondrial disease and document the type and degree of neuro-ophthalmological abnormality. We will provide detail on the retina, optic nerve, oculomotor function, eyelids and visual acuity. We will examine the optic nerve in detail and perform optical coherence tomography and visual evoked potentials on each patient. We will compare results to age-matched controls.
Examining The Specific Vulnerability Of Dopaminergic Cells To Bioenergetic Defects Using Patient-derived Induced Pluripotent Stem Cells As A Model Of Parkinson’s Disease
Funder
National Health and Medical Research Council
Funding Amount
$112,366.00
Summary
The project will develop new cell models of Parkinson's disease utilising the recently discovered technique of inducing pluripotent stem cells from adult skin cells and differentiating them into the type of neurons that are affected in Parkinson's disease. The novel method will allow further insights to be gained into the molecular pathways involved in the disease and facilitate a search for means to rescue these cells from neurodegenerative processes.