Quokka cure, not quackery

How the happiest animal on Earth provided hope for sufferers of a rare muscle disease.
diversus devops
diversus devops
Quokka cure, not quackery

Duchenne muscular dystrophy (DMD) is a muscle-wasting disease that affects one in every 3500 boys around the world.

It is a genetic disease that boys inherit from their mother. Girls can inherit the gene as a carrier and may display mild symptoms, but nothing as debilitating as a boy’s experience.

Boys are usually wheelchair bound by their early teens. Most die by their mid-20s, often from heart failure or an inability to breathe.

It was once thought incurable. But today, trials of a WA-developed drug are under way in America with promising results.

And who provided the jumpstart for this medicinal marvel?

None other than the happy, hopping quokka.


Back in the mid-20th century, scientists thought the quokka was quite an odd organism because of its unique biology and habitat.

To better understand these bounding bundles of happiness, scientists at UWA put several specimens in cages.

At first, they didn’t learn a lot.

Academic understanding of the quokka was hampered by the fact that they kept dying, though not before they suffered muscle paralysis.

In 1960, Professor Byron Kakulas, then a mere PhD candidate, was asked to investigate the problem.

Little did he know that he’d make a discovery that would revolutionise the treatment of several debilitating diseases.


Around this time, vet scientists discovered the importance of trace elements. Animals had to consume small amounts of minerals such as copper, zinc and chromium to maintain health.

Knowing this, Professor Kakulas began to suspect that the caged quokkas were suffering from a vitamin E deficiency.

When this deficiency was rectified, not only did the quokkas stop dying, but their muscles began to regenerate.

Previously paralysed quokkas recovered completely, something once believed to be biologically impossible.

This discovery—that muscle fibres are capable of regeneration—inspired a flurry of research. It initiated searches for cures of many different muscular diseases.

In 1967, the Muscular Dystrophy Association of Western Australia was established to fund a cure for DMD based on the quokka discovery.

Perth hosted the International Congress of Muscle Diseases in 1971. It was the first major international congress to be held in Australia, putting our medical research (and the quokka) in a global spotlight.

The Australian Neuromuscular Research Institute (now the Perron Institute for Neurological and Translational Science) was established in 1983. It facilitated research into other neuromuscular diseases such as stroke, Parkinson’s and multiple sclerosis.


Almost half a century after Professor Kakulas was presented with his first dead quokka, clinical trials of a drug to treat DMD have begun in the US.

DMD is the most common lethal muscle disease.

It is a genetic disease, with two-thirds of cases inherited from parents and the other third a result of spontaneous DNA mutations.

DMD affects how the body produces dystrophin, a protein that protects the membrane of muscle fibres during muscle contractions. Without dystrophin, the membranes get damaged and muscles waste away, replaced by fat and fibrous connective tissue.

Of all the genes in the body that make proteins, the gene for dystrophin is one of the longest with 2.2 million base pairs. That’s more than 30 times the length of an average protein gene, which has 66,600 base pairs.

The base pairs in the dystrophin gene are chunked into 79 exons of DNA, which join together like puzzle pieces in a chain.

DMD occurs when an exon in the middle of this chain is deleted, preventing the protein from linking together. To do its job in our body, dystrophin needs both ends of its protein chain.

Murdoch University researchers have developed a drug called eteplirsen, which can patch the two chain ends together.

Professors Steve Wilton and Sue Fletcher have created ‘molecular patches’ that mask the mutated section of DNA. Eteplirsen helps cell protein producers skip over the break in the DNA, creating shorter (but still semi-functional) forms of dystrophin.

This semi-functional dystrophin can prevent—and in some cases restore—the deterioration of muscle weakness.


Because the gene for dystrophin is so long, mutations that cause DMD can occur at many different points. This variability means that one drug can’t be used to treat all DMD patients as molecular patches are designed to mask one specific spot on the DNA.

Professors Wilton and Fletcher’s drug treats a gene mutation that affects around 10% of boys suffering from DMD.

Some data suggests that 80% of DMD patients have DNA mutations that would respond to this same gene-skipping technology.

And so far, clinical trials suggest that the technology works.


In 2012, 12 boys in the US participated in a trial of eteplirsen—at a cost of US$300,000 a year.

There have certainly been success stories. Billy Elsworth from Pennsylvania visited Perth to thank Professors Wilton and Fletcher. At 16, he is still able to walk. In fact, in 2015, he ran the Pittsburgh Kids Marathon.

Hopefully, while in Perth, he was able to hop on over to Rottnest Island and thank the quokka too.

diversus devops
About the author
diversus devops
View articles


We've got chemistry, let's take it to the next level!

Get the latest WA science news delivered to your inbox, every fortnight.


Creative Commons Logo

Republishing our content

We want our stories to be shared and seen by as many people as possible.

Therefore, unless it says otherwise, copyright on the stories on Particle belongs to Scitech and they are published under a Creative Commons Attribution-NoDerivatives 4.0 International License.

This allows you to republish our articles online or in print for free. You just need to credit us and link to us, and you can’t edit our material or sell it separately.

Using the ‘republish’ button on our website is the easiest way to meet our guidelines.


You cannot edit the article.

When republishing, you have to credit our authors, ideally in the byline. You have to credit Particle with a link back to the original publication on Particle.

If you’re republishing online, you must use our pageview counter, link to us and include links from our story. Our page view counter is a small pixel-ping (invisible to the eye) that allows us to know when our content is republished. It’s a condition of our guidelines that you include our counter. If you use the ‘republish’ then you’ll capture our page counter.

If you’re republishing in print, please email us to let us so we know about it (we get very proud to see our work republished) and you must include the Particle logo next to the credits. Download logo here.

If you wish to republish all our stories, please contact us directly to discuss this opportunity.


Most of the images used on Particle are copyright of the photographer who made them.

It is your responsibility to confirm that you’re licensed to republish images in our articles.


All Particle videos can be accessed through YouTube under the Standard YouTube Licence.

The Standard YouTube licence

  1. This licence is ‘All Rights Reserved’, granting provisions for YouTube to display the content, and YouTube’s visitors to stream the content. This means that the content may be streamed from YouTube but specifically forbids downloading, adaptation, and redistribution, except where otherwise licensed. When uploading your content to YouTube it will automatically use the Standard YouTube licence. You can check this by clicking on Advanced Settings and looking at the dropdown box ‘License and rights ownership’.
  2. When a user is uploading a video he has license options that he can choose from. The first option is “standard YouTube License” which means that you grant the broadcasting rights to YouTube. This essentially means that your video can only be accessed from YouTube for watching purpose and cannot be reproduced or distributed in any other form without your consent.


For more information about using our content, email us:

Copy this HTML into your CMS
Press Ctrl+C to copy