How genetic changes cause mito

Genes control the way you look and the way your body functions. Your physical features are the result of your genes, which you inherited from your parents. Genetic changes can lead to conditions such as mitochondrial disease (mito).

Key Points

  • Your genes are stored in your cells
  • There are about 25,000 genes in every cell
  • Genes are passed from parents to children
  • Genes make each of us unique
  • Genes control the way you look and how your body functions
  • Proteins are the building blocks of your body
  • Mitochondria are the powerhouse of cells
  • Each cells has lots of mitochondria
  • Genetic changes can cause mito in different ways
  • It’s helpful for your doctor to know about your family history
  • Genetic testing is usually ordered by a specialist doctor, not your GP
  • Medicare funding is only available for tests ordered by a specialist doctor

Download the Genetics and Mito fact sheet if you’d like to read more

Cells and genes

Your body is made up of 40 trillion cells, and your genes are stored in your cells. We all have about 25,000 genes in every cell.

Each cell contains a complete blueprint of your genetic plan, packaged in the form of genes, that allows your body to function. The genes you’ve inherited from your parents made you a uniquely individual person.

For example, neurons are the cells in nerves that transmit electrical signals that coordinate your movement. White blood cells fight disease and respond to infection.

All cells contain tiny organs, called organelles, which do things like transport nutrients and break down waste products. Only two of these organelles contain genes - the nucleus and the mitochondria.

An introduction to genes, genomes, and genetic instruction are explained here.

Cells and genes

  • The nucleus: The control centre of the cell where nearly all genes are stored. It contains about 25,000 genes.

  • The mitochondria: The powerhouse of the cell that converts food into energy and contains a small number of genes. Each cell has many mitochondria and each mitochondria contains 37 genes.

Mother with children

How genetic changes cause mito

The genetic code in all of us is 99.9% identical but a relatively small number of differences makes everyone unique. If there are changes or variations in our genetic code, it can cause certain conditions, including mito.

Mito occurs when genetic changes lead to incomplete or missing proteins in the mitochondria. These genetic changes stop the mitochondria from producing enough energy for your body, causing the symptoms of mito.

Genetic changes are explained here in more detail.

Different types of genetic inheritance

Mito is usually inherited from your parents. This can happen in a few different ways:

Understanding your family history

It’s helpful for your doctor to understand your family history. This will help them work out what type of mito may run in your family, your risk of passing mito on to your children, and whether other people in your family may carry the genes.

Genetic testing is usually ordered by a specialist doctor, not your GP. You can speak to your specialist or ask for a referral to a clinical genetics service. Clinical genetic services can provide up-to-date information on testing options and provide genetic counselling services to help you make an informed decision about testing. Medicare funding is only available for tests ordered by a specialist doctor.

Before you see your specialist or a genetic service, gather as much information about your family history as you can.

For instance, if you have relatives with premature deafness, blindness, seizures or other signs of mito, this information will be helpful to your doctor. It can help them work out what type of mito may run in your family.

Doctors and genetic counsellors can also use this information to map out your family history, like a family tree. This can show who may carry certain genes and who may not.

How a genetic counsellor can help

Discussing your family history with a genetic counsellor can help you get more information about mito and how it may affect your family.

A genetic counsellor can give you more information about genetic testing and what the results mean.

You might also want to see a genetic counsellor if you’re planning to have children, and you’re concerned about passing on mito to your children.

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
Version: 1.1
Date published: 30 January 2024