A genetic defect carried by 1 in 200 people – mitochondrial disease

We’re excited to announce this month the addition of the Australian Mitochondrial Disease Foundation to our roster of amazing supporters.

The organization was founded in 2009 to support mito patients and their families via community activities, advocacy and education, whilst supporting research into diagnosis and treatment in the hope that this will translate into preventions and cures.

So what is mitochondrial disease?

Mitochondria are bean-shaped organelles that float freely inside almost every cell in our body. They have a double membrane – the site of various biochemical reactions, including cellular respiration – the process of converting carbohydrates, fats, and proteins into fuel for cells.

They may be small but each mitochondria requires more than 1400 genes to create it.  Mitochondrial disease (‘mito disease’ for short) is due to a fault in one or more of these genes. Since high energy organs require so many mitochondria within their cells, they are usually the first to be affected in mitochondrial disease. These include the brain, nerves, muscles, eyes, ears, heart, bowels, liver, kidney and pancreas.

Symptoms range from fatigue and weakness to developmental delays, dementia, seizures, movement disorders, blindness and gastrointestinal conditions such as indigestion.

According to recent Australian studies about 1 in 200 people will carry a mitochondrial genetic defect – nearly 120,000 Australians. Not all of these people will develop the illness but the risk of developing serious illness is about 1 in 5,000.

Given the range of organs and functions potentially affected, mitochondrial diseases are difficult to diagnose but they can be made through a combination of clinical observations, diagnostic imaging, and pathology tests including blood tests and muscle biopsies.

There is currently no cure for mito disease but there are treatments and therapies that can alleviate symptoms and slow the progression of the disease, so an accurate diagnosis is important.

The research carried out with the support of AMDF will hopefully make diagnosis easier for future patients. This month, for example, AMDF teamed up with the Australian Genomics Health Alliance to conduct genetic screening on people with suspected mito disease.

The partnership will ensure that all those with suspected mito will have access to genetic testing via a blood test and a conclusive diagnosis – without which fifty per cent of people would have been subject to inconclusive and invasive tests and potentially still no diagnosis.

To find out more about mito disease and the Foundation’s important work in helping patients, you can check out their website here.