What is mitochondrial disease?

Mitochondria are tiny structure that are found in almost every cell in the body. They convert the food we eat into energy to power our bodies, like tiny power stations. Cells make up all of the tissues and organs in the body, including the kidneys. If the cells do not have enough energy, the tissues or organs do not work properly.

Mitochondrial disease refers to a large group of genetic conditions that disrupt how the mitochondria function. These conditions can have a particular effect on high-energy parts of the body including the kidneys, heart and muscles.

Around 1 in 200 babies in the UK are born with a genetic change that could cause a mitochondrial disorder, however most will never develop the disease.

Mitochondrial disease is believed to affect around 1 in 4,300 adults in the UK. Different mitochondrial diseases affect people at different ages. Some are more common in babies and children whereas others only occur in adults.

Most mitochondrial diseases affect men and women equally.

What causes mitochondrial disease?

Mitochondrial diseases are caused by genetic mutations. Many different genes can be affected.

Mitochondrial disease occurs when there is a problem converting energy within the cells of the body. When an organ’s cells do not have enough energy to function, they stop working. This can affect how the organ itself works.

The kidneys use 7% of the body’s energy, the second highest amount after the heart. The kidneys are therefore particularly at risk if there is a problem with energy production. If lots of cells are affected kidney damage can eventually occur.

What are the signs and symptoms of mitochondrial disease?

The signs and symptoms of mitochondrial disease vary for each condition. For those that affect the kidneys, the signs and symptoms are similar to those of chronic kidney disease (CKD).

These include:

• weight loss and poor appetite
• swollen ankles, feet or hands
• puffiness around the face, especially in the morning
• shortness of breath
• tiredness, low energy levels
• blood in your urine
• an increased need to wee, especially at night
• difficulty sleeping
• itchy skin
• muscle cramps or weakness
• feeling sick
• headaches

How is mitochondrial disease diagnosed?

Mitochondrial disease can be very hard to diagnose because any symptoms are often vague and can be due to a variety of other conditions. Blood and urine tests may be used and genetic testing may be offered, especially if there is a family history of mitochondrial disease.

Your healthcare team may suspect mitochondrial disease if they cannot find another cause for your kidney disease.

Does mitochondrial disease affect other parts of the body?

Mitochondrial disease can affect any part of the body. It is more noticeable in organs that use a lot of energy such as the brain, heart, muscles liver, kidneys, eyes and ears. In some people only one organ is affected by mitochondrial disease whereas others have multiple organ effects.

Does mitochondrial disease run in families?

Mitochondrial disease occurs due to a genetic mutation. Mitochondria are inherited from our mothers. If there is a mutation in the mother’s mitochondria, it will be passed onto her child.

How is mitochondrial disease treated?

There is currently no cure for mitochondrial disease so treatment focuses on relieving the symptoms.

Lifestyle changes can help to support the body’s energy supply. This can include:

• Maintaining a healthy weight.
• Staying active and moving more. This can be a simple as increasing the amount of walking that you do each day. Doing any amount of physical activity is better than none. Your GP can give you advice about how to exercise safely.
• Giving up smoking. Your GP can help you with this.
• Giving up or cutting down on your alcohol intake.
• Keeping up to date with your vaccinations. When you have kidney disease, you are more likely to get other illnesses and take longer to recover. This can make your kidney function worse, so it is important to get treatment early. Ask your GP about having flu, pneumonia and Covid-19 vaccinations.
• Checking your blood pressure regularly. Your GP can teach you how to do this yourself at home.

Dietary changes and/or supplements may be recommended. Always follow your healthcare team’s advice.

If your mitochondrial disease causes severe kidney damage, dialysis and/or transplant may be recommended.

Where can I get more information or support about mitochondrial disease?

For more information on mitochondrial disease, including its genetics, diagnosis, symptoms and treatment, visit The Lily Foundation

Publication date: 09/2025

Review date: 09/2028

This resource was produced according to PIF TICK standards. PIF TICK is the UK’s only assessed quality mark for print and online health and care information. Kidney Care UK is PIF TICK accredited.