Mitochondria are the powerhouses of the cell providing the body with over 90% of the energy it needs to sustain life. Mitochondria take in fats, sugars and protein from the food we eat and produce energy called ATP that our bodies use to function properly. Mitochondrial disease ('mito' for short) is caused by a fault in one or more of the genes that make up the mitochondria. These faulty genes can be inherited from the mother or the father.

This video has been generously shared with permission from Wellcome Centre for Mitochondrial Research.

One in 200 people have genetic changes that put them at risk of developing mito.1

Mito is an umbrella term, like 'cancer'. There are many different types of mito, as there are many types of cancer. Some forms of mito affect a single organ, whereas many involve multiple organ systems. It's important to talk to your healthcare provider to understand what your diagnosis means for you.

One in 4,300 people are affected by mito, making it one of the most commonly diagnosed genetic diseases.2

If you need more information or someone to talk to, you can call our helpline at 1300 977 180. We're here to help you through this journey.

What are mitochondria?

Mitochondria are the powerhouse of the cell.

What is mitochondrial disease?

Mitochondrial disease (mito) is an umbrella term, like ‘cancer’.           

What types of mito are there?

There are many different types of mito, as there are many types of cancer

How do genetic changes cause mito?

Genes are the information that make you unique.

Learn more about the symptoms that impact you.

There are different ways that mito can be diagnosed. Understanding your diagnosis can help you access the best treatment options.

Regular tests are recommended for most people with mito. These will look at how mito is affecting you.

Talking to others about mito may seem overwhelming. Here are ways you can prepare for that conversation.

A diagnosis of mito for you or a loved one can be very stressful and may leave you experiencing a rollercoaster of emotions. Get assistance to navigate these emotions.

Meet Sarah, a remarkable individual who received a diagnosis of mito just over a decade ago. In her inspiring story, Sarah candidly shares the challenges of living with mito while also recognising the unexpected silver lining it has brought into her life. She says that not being able to do many things at once can be a good thing. It helps her focus on what's happening right now. She believes that taking forced breaks makes her notice and appreciate the small, everyday things that busy people might miss.

Disclaimer: Resources provided by the Australian Mitochondrial Disease Foundation Limited (Mito Foundation), offers general information and is not a substitute for medical advice. It is essential to assess the suitability of the content for your individual circumstances and make decisions based on your medical condition. The information’s accuracy is subject to change, and we do not guarantee ongoing currency or availability. While efforts are made to ensure accuracy, Mito Foundation is not obligated to provide updated information. The copyright for this document and its content belongs to, or is licensed to, Mito Foundation, and reproduction without prior written consent is prohibited.

Author(s): Mito Foundation
Reviewer(s): Professor John Christodoulou AM MB BS PhD FRACP FRCPA FHGSA
Version: 1
Date published: 28 November 2023