Spotlight on a Researcher: Dr Shyuan Ngo

6 Dec 2017

Dr Shyuan Ngo is a group leader working in the UQ Centre for Stem Cell Ageing and Regenerative Engineering (UQ-StemCARE) at AIBN. She and her team are trying to determine what causes the development and progression of Motor Neurone Disease (MND).

MND is a neurodegenerative disease in which the nerve cells (neurons) that control muscles progressively die. Without adequate connection to the nervous system, muscles all over the body, including those that enable movement, swallowing, and even breathing can no longer function properly. Sadly, MND is a terminal disease with an average life expectancy of only around 27 months from the time of diagnosis. Currently, there is no cure for MND in part because its genetic and cellular mechanisms are not fully understood.

In Australia, two people are diagnosed with MND every day, and two people will die from MND every day. MND and can strike at any age, says Ngo. Moreover, most cases of MND are sporadic, meaning there’s no known family history.

“Only 10% of people with the disease have a genetic association that runs through the family.” 

These cases have helped identify certain genetic variations associated with MND, but these alone don’t predict whether you will get the disease. Sometimes it skips generations.

Moreover, there’s also a lot of individual variation in early symptoms of the disease and how it progresses. 

 “We can’t cure a disease if we don’t know where and when it starts,” she says. “It’s a moving target.”

To better understand the processes that drive MND, Ngo is investigating how it affects energy expenditure. 

She and her colleagues developed a platform technology that led to the theory, and subsequent discovery that the muscle cells of MND patients use more energy than they should.

Patient to patient variation in that muscular energy use seems to be related to how the body uses energy as a whole, and this itself has a significant effect on how quickly the disease progresses. Ngo’s platform technology helps assess energy use in MND patients, and this can help guide treatment and potentially improve clinical trial design. 

For Ngo, the next big question is to figure out why energy use is so different in MND.

It’s a ‘chicken and egg’ problem, she says. Are the muscles using too much energy because they are overcompensating for the problems in the nerve cells, or are the problems in the nerve cells actually being caused by the energy overuse in the muscles?

By taking muscle biopsies and comparing them not only with healthy controls but with muscle biopsies of other MND patients, Ngo is hoping to identify factors in muscle structure, metabolism, or even the way those muscles link with the motor neurons, that may explain the high energy consumption.

Ngo’s research also involves taking a closer look at what’s going on inside the neurons. One way to do this is to take a sample of skin cells from an MND patient and revert them to stem cells. With the right molecular instructions, those stem cells can then be turned into neurons, which can be studied to identify anything unusual. 

It’s a helpful approach, says Ngo, but this process of turning skin cells into neurons has a way of erasing epigenetic changes that are accumulated during a person’s lifetime. The epigenetic changes aren’t DNA mutations, but are changes in the chemical ‘tags’ on genes that affect how genetic instructions are interpreted by the cell. For example, they can influence whether certain genes are turned on or off.  As such they can have a big influence on the development and progression of disease. 

Ngo is now working with researchers in the USA and UQ-StemCARE to find a way to turn skin cells directly into neurons without losing that potentially valuable information, because environmental factors can cause epigenetic changes.

“If we can do this, we can study how the environment may have affected the condition.”

When asked who inspires her in her work, she smiles and answers. “The people here at AIBN! That’s why I’m here. I am also inspired by the people we work with who are living with MND. They have a never give up attitude and are always getting involved in research...so why should I give up? The motto for the MND community is “Never Give Up”. It’s a good motto.”

She is also motivated by her colleague, neurologist Dr Robert Henderson, who works directly with MND patients, and her husband Dr Frederik (Derik) Steyn, who is also a researcher in the field of MND.

“Dr Henderson is really driven to do research for patients to help them because he genuinely cares about the people he’s looking after. That’s very inspiring for me. ”Derik, he has experienced first-hand what neurodegenerative disease does to a loved one. He doesn't want anyone else to go through that.”

As for life outside the lab, Ngo has recently bought a motorbike and is learning how to ride it. It’s quite an endeavour, but she likes a challenge. 

Media: communications@aibn.uq.edu.au; Dr Shyuan Ngo s.ngo@uq.edu.au +61 7 336 53847

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