Mitochondrial Information Day

About two hundred people crowded into the lecture theatre on the 5th floor of the Kolling Institute at Sydney’s Royal North Shore Hospital on March 5th to participate in the inaugural Mitochondrial Information Day. Admirably put together by RN Wendy Welsh under the auspices of Associate Professor Carolyn Sue and the Department of Neurology, those present were given an up-to-date report on the state of medical research into mitochondrial disease by A/Prof. Sue and Dr Neil Manwaring, Lab manager of the Neurogenetics Research Laboratory. The occasion was also used to announce the creation of the Australian Mitochondrial Disease Foundation.

A/Prof Sue, who is one of the world’s experts on mitochondrial disease, led off. She was the first to establish that mitochondrial deafness is mainly due to failure of the cochlea, not the nerve as had been previously thought. Participants were treated to a moving video of a mitochondrial patient who had had a cochlear implant and had just heard her first sentence for a long time. A/Prof Sue went on to describe the mitochondria and the causes of mitochondrial disease, which are mainly due to a shortfall in energy as the mitochondria fail. She pointed out that whereas in earlier times diagnosis had been mainly by muscle biopsy, a more holistic approach was now used that included the assessment of many of the body’s components: hair, blood, saliva, skin, and organ function, etc.

Prevalence of Mitochondrial Disease

Dr Manwaring, Lab manager of the Research Laboratory at the Department of Neurogenetics, outlined the results of several recent studies on the prevalence of mitochondrial disease. Mitochondrial mutations were first described in 1988 and were then thought to be rare, possibly 5 in 100,000. More recent studies, including one of 3,000 respondents in the Blue Mountains of NSW, had established prevalence in the range 1 in 200-250 (400-500 in 100,000).

Exercise the Best Treatment

Wendy Welsh then gave a rundown on a ‘normal healthy life’ and how to achieve it. Mitochondrial failure leads to lack of energy – fatigue. Exercise counteracts that effect, generates new healthy mitochondria, and endomorphins, the ‘feel good’ products that make one feel better about life and ones self. Before embarking on an exercise routine, check your physical condition first. Plan one’s exercise to balance against forthcoming activity so that the body is not overstressed.

Wendy emphasised four things:

• limit overactivity (keep the heart rate to 70% of maximum);
• rest before undertaking physically demanding tasks;
• moderate demanding activities; and,
• spread the load.

The trick is to begin slowly, building up steadily to the desired maximum, never exceed the planned heart rate, monitor your response and know your limits, and avoid overactivity. Build up should take about 6 months and the effects will begin to appear in about three. And once the maximum has been reached, keep it going, unless affected by illness, particularly infection. Then stop and build up again once the illness has been dealt with. Involve the family or another support group. This makes it more fun and easier to maintain the effort – “share the pain and the gain”.

AMDF Created

“Why set up an Australian Mitochondrial Disease Foundation?” asked Dr Doug Lingard. Many of us are members of or have donated to the United Mitochondrial Disease Foundation in the USA. Well, there are several reasons, as he explained:

• Funds donated to offshore institutions do not qualify for tax exemption.
• Funds donated in the USA benefit American patients instead of Australian ones.
• Australian donations will support Australian mitochondrial research which is as good as any in the world.
• The United Mitochondrial Disease Foundation is expecting considerable support from the new Obama initiatives to fund American research.

Doug was at pains to point out that the formation of the Australian Mitochondrial Disease Foundation is not to offer competition to the United Mitochondrial Disease Foundation but to complement it, to expand research into mitochondrial disease, and to keep building research and awareness in Australia. The objectives of the Australian Mitochondrial Disease Foundation are:

• to raise funds for research;
• to provide information on diagnosis, treatment, and progress in treatment;
• to connect those affected and build support;
• to build connections between specialists;
• to raise awareness among the general medical profession and the public;
• to lobby governments for cheaper drugs and better support facilities; and
• to provide information on what ancillary services are available, such as Centrelink, social workers, pharmaceuticals, etc.

Information Day Wrap Up

The session ended with some more detailed information from A/Prof Sue on research that her team at Royal North Shore is doing, including some fascinating work on stem cell research. The next ten years it is hoped will see great strides towards being able not only to manage mitochondrial disease but hopefully to cure it.

With the session over attendees were able to browse through the information booths where the speakers were available to answer questions, the AMDF was recording registrations for the AMDF Community and receiving donations, and AMDF caps and ‘Think Mitochondrial’ t-shirts were available.

Congratulations, and heartfelt thanks to all who played a part in setting the day up. We look forward to increasing momentum as we work to put mitochondrial disease where it belongs – at the front of medical knowledge.

Prepared by Rob Ryan.