Just like your mum? New study investigates genetic links in glaucoma

You may have your mum’s blue eyes, or your grandma’s nose, but new research from CERA’s Neurodegeneration team is looking at the link between changes in the mitochondrial DNA – inherited from your maternal line – and optic nerve diseases such as glaucoma.


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Principal Investigator Ian Trounce was awarded a Project Grant from the National Health and Medical Research Council (NHMRC) to fund the research.


Associate Professor Trounce leads the Neurodegeneration team at CERA, investigating the impact of faulty mitochondria, which provide energy for the cell, on the health of the optic nerve.


His research shows that faulty mitochondria plays a key role in the development of diseases such as glaucoma and other diseases where the optic nerve is damaged, causing vision loss.


“Existing treatments for glaucoma aim to lower eye pressure but in many patients this approach does not slow vision loss,” said Associate Professor Trounce.


“We have new evidence that the energy generating cellular power-packs, the mitochondria, are defective in glaucoma.’’


Mitochondria have a small but vital set of genes which are inherited from our mothers, separate to the nuclear genes that come from both mother and father.


This funding from the NHMRC will allow Associate Professor Trounce to conduct a four-year study to determine if mitochondrial gene changes contribute to impaired mitochondrial function in 1000 Australian patients with glaucoma.


“If true, we may define a sub-group of glaucoma subjects with mitochondrial DNA markers where entirely new approaches to slowing vision loss can be developed,” said Associate Professor Trounce.

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