UQCCR Seminar Series – 15 September 2021: Dr Carlie Cullen and Dr Goutham Narayanan Subramanian

Dr Carlie Cullen - Myelin: shaping the cortical motor circuit

Bio: Dr Carlie Cullen attained her PhD in cognitive neuroscience from the University of Queensland in 2014 before joining the laboratory of A/Prof Kaylene Young at the University of Tasmania as a junior postdoc. She is now a Senior Research Fellow and head of the Glia in Cognition research group at the Menzies Institute for Medical Research, University of Tasmania. Dr Cullen’s research program aims to learn how physiological or pathophysiological myelination impacts neural circuit structure and function. Ultimately, she is striving to understand how myelin influences our ability to think, feel and behave; and determine how the impact of perturbed myelination can be offset to treat neurological/neuropsychiatric disease.

Dr Goutham Narayanan Subramanian - An anaplerotic approach to correct the mitochondrial defect in Ataxia-Telangiectasia

Overview: Ataxia Telangiectasia (A-T) is a rare, autosomal recessive disorder caused by mutation in the ATM gene. A-T has a global incidence of 1 in 40,000 – 100,000 live births with a heterozygosity of 1.27% among the general population. This debilitating disorder is characterised by an early onset, progressive neurodegeneration with an average life expectancy of ~ 2 decades. 

Recently, Yeo et al., 2021 have demonstrated that ATM-deficient cells are hypersensitive to glucose deprivation thus unravelling a mitochondrial dysfunction in A-T. This has led the group to study the effect of employing an anaplerotic agent, Triheptanoin to understand how or if corrects the mitochondrial defect in A-T. Triheptanoin is a medium-chain triglyceride that has received regulatory approval for use as a source of energy for long-chain fatty acid oxidation disorders (LC-FAOD) patients. This drug has been approved for a MRFF-funded phase 2 clinical trial to treat A-T patients in Australia.

Dr Subramanian will present on the work undertaken at the Lavin lab using cellular models to understand the mechanism of action of heptanoate, a by-product of Triheptanoin in correcting the mitochondrial dysfunction in A-T which will inform the clinical trial.      

Bio: Dr Goutham Narayanan Subramanian is a Post-doctoral Research Fellow in the Lavin Ataxia Research lab.  He recently graduated with his PhD from the University of Queensland in November 2020. During his PhD, Dr Subramanian undertook extensive training in interrogating the genetic regulation involved in the development of oocytes, specifically focussing on response to genomic stress.  Dr Subramanian is currently involved in studying the mitochondrial dysfunction in Ataxia Telangiectasia (A-T), a rare autosomal recessive disorder caused by mutation in the ATM gene. His current research focusses on understanding the communication between endoplasmic reticulum and mitochondria, differential metabolic profile between healthy and A-T cells in order to identify biomarkers that could be potentially used to evaluate the prognosis of A-T patients undergoing a MRFF-funded clinical trial using a novel anaplerotic approach to correct the mitochondrial dysfunction in A-T.