Hudson Institute Centre for Genetic Diseases researcher, Dr
Matthew McKenzie, will travel to Japan to develop a mitochondrial
disease research program, thanks to a new grant.
Dr McKenzie is the recipient of a travel grant from The
Australian Academy of Science's Research Visits to Japan Program 2016/17.
Dr McKenzie will join Japanese collaborators, Professor
Akira Ohtake from Saitama Medical University and Dr Kei Murayama from Chiba
Children’s Hospital in Tokyo for 14 days.
“Mitochondria generate most of the energy required for
cellular function by oxidizing fats and sugars,” Dr McKenzie said.
“Disruption of this process can result in fatal
mitochondrial disease, affecting heart, brain and liver function.”
The team will look to build on their preliminary
findings, dating back as far as 2013, by using skin cells from patients to
investigate how combined defects in fat and sugar metabolism cause
mitochondrial disease.
“We will convert these skin cells into pluripotent stem
cells for differentiation into cardiomyocytes and neurons," Dr McKenzie said.
“This will allow us to model human mitochondrial disease
directly in the heart and brain for the first time, providing novel, cell
type-specific insights into mitochondrial disease pathology."
Dr McKenzie says a strengthened relationship between
institutions could open up new pathways for future collaboration between Tokyo
and Melbourne, including for PhD students.
“This visit will allow us to strengthen our research
collaboration and drive a new area of metabolic research that will examine how
combined defects in mitochondrial fat and sugar metabolism cause mitochondrial
disease.”

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