Weak muscles, strong ideas
New research may change our understanding of muscle weakness diseases, offering new hope for a cure
by Martina Donkers
The pharmacy department at Cooma Health Service looks out over the hospital, catching the sunlight even on dreary days. “Best view in the place,” smiles pharmacist Sandra Donkers. The shelves are crowded with boxes containing more medications than most people know what to do with. But none of those medications treat muscle weakness diseases. For those patients, there is little Sandra can do.
“We just don’t understand enough about how muscle contraction works,” explains Sandra. “Without that understanding, we can’t treat the disorders, which can be very debilitating.” Sandra recalls patients who have lost their mobility and independence as their muscles simply can’t do what they need to.
Muscle contraction is what interests Elize Wium, a new addition to the PhD researchers at John Curtin School of Medical Research at The Australian National University. “In high school I always enjoyed the sciences the most, so I guess that’s where it all started,” explains Elize. “So I thought, go to uni, do a Bachelor of Medical Science – because it sounded cooler than a Bachelor of Science,” she laughs. Elize’s interest in muscle research sparked during a lab placement for her degree, and she has never looked back, having become “invested in the project”.
“Basically my research focuses on trying to understand muscle contraction,” explains Elize. “There are a lot of diseases associated with skeletal muscle as well, like muscular dystrophies, those sorts of things, so if we understand the mechanisms by which muscles contract then you can start learning what can go wrong and why you’ll have problems later on. In essence I’m just looking at the very basic elements, the proteins involved in triggering muscle contraction, but in the long run hopefully it will help us to better understand muscle disease.”
Elize’s research is great news for anyone whose muscles don’t work the way they should, such as the 20 000 Australians with muscle weakness diseases. Muscular Dystrophy Australia explains that such diseases can affect anyone, and dramatically shorten life expectancy – most children diagnosed with muscular dystrophy aren’t expected to reach their twenties. Because of the limited understanding of how muscles actually contract, there is no cure.
Elize’s research investigates a protein called Triaden and the way it regulates the ryanodine receptor, a channel that allows calcium from a store in the cytoplasmic reticulum to flow into the rest of the cell. “For a muscle to contract, calcium has to go from inside the store into the cytoplasm,” explain Elize. “The ryanodine receptor is one of the channels that allows calcium to flood from inside this closed store to outside.” How effectively the muscle contracts depends on how much calcium is released, so understanding exactly how it works will lead to a much better understanding of muscle contraction. Elize is trying to find the exact region that binds triaden to the ryanodine receptor. She describes the complex as “a sort of gigantic protein network where all the proteins are sending each other signals and you’re not entirely sure what’s happening, so I’m just trying to sort out just one small element of that.”
Elize is optimistic about her research. “Triaden is the new black,” she jokes, explaining that her research focus has begun to draw attention in the past 12 months, due to new developments in the field. The research “is going to change the way we view muscle contraction,” she says.
Back at Cooma Health Service, Sandra too is optimistic. “Anything that adds to our understanding is going to help,” she says, and while luck might not be with those who currently have muscle weakness disorders, there are constant new developments in medicine and drug technologies. “A simple tablet to strengthen the muscles would be ideal,” adds Sandra.
While a cure for muscular dystrophy and other muscle disorders is still some way in the future, we may now be headed in the right direction at last. Elize’s research will “change some of the fundamental principles” of her field, and while that won’t put medication on Sandra’s shelves in the next few years, one day treatment for muscle weakness disorders may be as simple as she hopes. “It would improve the outlook for a lot of people’s lives,” says Sandra.