The quokka, a marsupial species about the size of a domestic cat that is found in small pockets on islands off the coast of Western Australia, in particular on Rottnest Island off Perth, has played a curious role in the history of muscular dystrophy research.
In the post-World War II period, the quokka was intensively investigated by scientists from the University of Western Australia because of its unique habitat and biology. However, this important research was hampered by the animals dying of muscle paralysis when kept in small cages on the university campus.
In 1960, Professor Byron Kakulas, then embarking on what was to become a stellar career in neuropathology, including the study of muscle disease, was asked to investigate the problem. Despite many theories to the contrary, Professor Kakulas began to believe that the muscle breakdown in the caged quokkas was due to anti-oxidant deficiency. He showed that it was possible to successfully treat paralysed quokkas with Vitamin E, in the process making the momentous discovery that complete muscle regeneration is achievable, something that was previously believed to be impossible because the prevailing theory was that muscle as a specialised tissue was incapable of regeneration after injury. The treated quokkas completely recovered and serial biopsies of their muscle revealed a sequence of changes leading to complete regeneration.
This world-shattering discovery completely reversed the prevailing dogma towards muscle diseases and especially to the muscular dystrophies, which had been previously considered to be hopelessly incurable.
Such was the importance of this discovery that a large international meeting was held in Perth with the object of promulgating the discovery and stimulating research worldwide, which was considerably accelerated as a result. This meeting, which took place in 1971, was the first major international congress to be held in Australia and put Australia’s medical research on the international map.
Built around the discovery of complete muscle regeneration in the quokka was the academic publication Principles of Myopathology as Illustrated in the Nutritional Myopathy of the Rottnest Quokka, which was adopted as the standard teaching of the subject worldwide. Much of the tremendous progress that has taken place in muscle research since 1960 can be traced back to the early work on the quokka.
The Muscular Dystrophy Association of Western Australia (MDAWA) was established in 1967 to raise money to find a cure based on the quokka discovery. Fund raising was spearheaded by the Rotary Club of West Perth and supported by the Chanel 7 Telethon Charitable trust. Later it was possible to widen the scope of research to include other neuromuscular diseases through the establishment of the Australian Neuromuscular Research Institute (ANRI), in 1983, now the Western Australian Research Institute (the Perron Institute).
The dream that muscular dystrophy could be cured was fulfilled by Professors Steve Wilton and Sue Fletcher of the institute who have applied elegant molecular techniques to override the mutation and correct the genetic defect underlying Duchenne muscular dystrophy. Their work is now undergoing clinical trials in the United States.
It can be said that there are very few instances in the history of medical research that have progressed from blindness to cure in one lifetime, in the case of muscular dystrophy in one of the most difficult fields of human disease.
The quokka research was the subject of Professor Kakulas’ doctoral thesis in 1963 and was subsequently published by the UWA Press (1982). A concise history of muscle research may be found in the journal, Neurology India (56: 258-262, 2008).