29 July 2016

Prize-winning researcher in gene-fault quest

A quest to discover the mechanism that causes a particular protein-activating gene to switch off at birth has helped a Perth researcher collect one of two research prizes awarded annually by the Department of Health.

Rhonda Taylor, a researcher at the Harry Perkins Institute of Medical Research, believes unlocking this genetic mystery could hold the key to a cure for a rare but debilitating muscle-wasting disease, nemaline myopathy, that usually shows up at – or soon after – birth.

The disease causes muscle weakness, reduced movement and difficultly feeding and breathing. There is currently no therapy or cure for the disease and many born with the condition die within the first year of life.

“Babies born with this disease have reduced muscle movement, don’t smile and have difficulty breathing and feeding,” Dr Taylor says.

The disease is caused by a fault in the gene responsible for producing skeletal muscle actin, a protein found in skeletal muscles – the voluntary muscles in our limbs and trunk.

This fault is not detected prior to birth because heart actin – a protein of the heart that is almost identical in composition and function to skeletal muscle actin – is produced by another gene and this compensates for the defective skeletal muscle actin.

At birth however, the gene for heart actin switches off – exposing the malfunctioning skeletal muscle actin.

“If we can keep the heart actin gene switched on in people who have this condition, we may be able to prevent the otherwise inevitable muscle wastage,” Dr Taylor says.

Some of her research colleagues have already discovered that mice with skeletal muscle actin mutations are rescued when given heart actin.

“These mice would normally die within nine days,” she says.

“But when they are given heart actin in their skeletal muscles, they survive to old age.”

Now the goal of Dr Taylor and her colleagues is to replicate this result in humans.

Dr Taylor emphasises that the research is in its early stages but says it is hoped a drug can be found that will keep the heart actin gene switched on.

“Ideally we are hoping to find a drug that has already been approved but that can be repurposed to turn on the heart actin gene.”

Dr Taylor’s Department of Health prize was presented in recognition of her outstanding contribution to the Australian Society for Medical Research’s WA Scientific Symposium.

The Department’s awards are open to higher-degree students and early-career academics.

WA’s Chief Medical Officer Gary Geelhoed said Dr Taylor was to be congratulated on her award which highlighted the important research being conducted in Western Australia.

Telethon Kids Institute researcher and third-year PhD student Anthony Buzzai received the other Department of Health Award for his presentation about a novel therapy for cancer that utilises the immune response produced by the body to eliminate a virus.

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