Mitochondrial Diseases (Group of Conditions)

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information on this group of conditions, please refer to RVA Partner, Mito Foundation.¹

A list of specific mitochondrial conditions can be found at RARE Portal: List of Mitochondrial Diseases. Individual pages for primary mitochondrial conditions will be added to the RARE Portal in time.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Contributors

This page has been co-developed with RVA Partner, Mito Foundation.¹

Emergency Management

There may be special considerations for the emergency management of individuals living with mitochondrial diseases presenting to emergency departments.

People with mito, particularly those at risk of acute episodes or recurrent episodic crises, are recommended to have an emergency management plan. This can help to inform healthcare professionals of specific needs (e.g. nutrition, medications, allergies) as well as contraindicated therapies. This plan should include guidelines for managing a critical illness of emergency and the contact details for their mito specialist.

Recommendations for critical care of individuals with mitochondrial diseases can be found at Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

Clinical Care Guidelines

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations has been prepared by a working group of medical practitioners, nurses, and allied health professionals, and includes emphasis on clinical management relevant to Australian context.²

Synonyms

Mito; MD; Primary mitochondrial disease; mitochondrial myopathy; mitochondrial encephalopathy; mitochondrial cytopathy

ORPHA:68380

Summary

Mitochondrial diseases are a group of genetic and metabolic conditions that affect the mitochondria – structures in the cells of a person’s body that produces energy.^1,2 When mitochondria are unable to produce sufficient energy for the cells, this can lead to organs not functioning properly, and in some cases organ failure and premature death.^1,2 Mitochondrial diseases are often summarised as “any symptom, in any organ, at any age”,¹ as it can cause a wide range of symptoms, affect almost any body system, and can present at any age.^1,3 Among the tissues and organs that are most commonly affected are the brain and nerves, eyes, ears, heart, muscles, kidneys and liver as well as the digestive and endocrine (hormone-producing) systems.^1,3Multiple organs can be affected in some individuals, resulting in a multisystemic condition. In addition to the wide range of symptoms, there is high variability in how the symptoms may present and the symptoms can often be mistaken for other illnesses.¹

Mitochondrial diseases vary between individuals, and each person’s experience is unique. Please visit Mito Foundation: Mito Stories to read the personal stories of people living with mitochondrial diseases.

Useful Links for Professionals

Mito Foundation: For Health Professionals

Mito Foundation: Maybe It’s Mito (for GPs)

Mito Foundation: Health Professionals Continuing Professional Education

GeneReviews®: Primary Mitochondrial Disorders Overview

Orphanet: Mitochondrial disease

Symptoms

There is a wide range of symptoms associated with mitochondrial diseases that can present at any age and various organs can be affected.¹

Information about the various symptoms associated with mitochondrial diseases can be found at Mito Foundation: Understanding symptoms of mito.

Please speak to your medical team to learn more about the symptoms for a specific type of mitochondrial condition.

Cause/Inheritance

Mitochondrial diseases are caused by genetic changes in genes that affect mitochondria in cells. Mitochondria, also known as the powerhouse of cells, are specialised structures (organelles) within the cells that produce energy.⁴ Whilst a person’s DNA is mostly found in an organelle called the nucleus (known as nuclear DNA), there is also DNA in the mitochondria (known as mitochondrial DNA). There are specific genes in both the nuclear and mitochondrial DNA that are responsible for the mitochondria functioning properly.^1,3 Genetic changes in those specific genes can affect normal functioning of the mitochondria and lead to mitochondrial diseases.

Genetic changes that affect the mitochondria can occur randomly (de novo mutations that occur during conception or before birth) or are inherited from one, or both, parents. Each mitochondrial disease has a specific inheritance pattern.¹

If the genetic change occurs in the nuclear DNA, it can be inherited from either or both parents, depending on whether it is an autosomal or X-linked condition, and whether it has a dominant or recessive inheritance pattern.^1,3,5 If the genetic change occurs in mitochondrial DNA, the condition will only be inherited from mothers as mitochondrial DNA is passed down from mothers to their children (maternal inheritance pattern).

Further information about the genetics of mitochondrial diseases can be found at Mito Foundation: Genetics and Mito.

If you would like to learn more about the inheritance and impact of a specific mitochondrial condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.

Diagnosis

Diagnosis of mitochondrial diseases may be based on the following:⁴

comprehensive medical history
blood and urine tests
electrophysiology studies
imaging of the brain and other organs
audiometry and cardiac investigations
genetic testing, such as whole genome sequencing (WGS), whole mitochondrial genome (mtDNA) analysis and targeted DNA sequencing
tissue biopsy of the muscle, skin, or liver

The increasing availability and reduced cost of genetic testing is likely to decrease the need for invasive tests (such as biopsies) and increase the number of people diagnosed through genetic testing.⁴

Please speak to your medical team to learn more about the diagnosis pathway for a specific type of mitochondrial condition and whether you meet the criteria for Medicare-funded genetic testing.

Treatment

There is no curative treatment for mitochondrial diseases, but there may be strategies to manage the symptoms, which may involve a multidisciplinary medical team.

It is best to speak with your medical team to learn more about any available treatment or suitable management strategies for a specific type of mitochondrial condition.

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations was prepared by a working group of medical practitioners, nurses, and allied health professionals, and includes emphasis on clinical management relevant to Australian context.²

Clinical Care

Healthcare professionals involved in the treatment of mitochondrial diseases are often part of a multidisciplinary team and may include, but are not limited to, general practitioners (GP), paediatricians, metabolic physicians/consultants, geneticists, neurologists, neurogeneticists, ophthalmologists, neuro-ophthalmologists, endocrinologists, cardiologists, gastroenterologists, respiratory and sleep physicians, dietitians, psychologists, physiotherapists, exercise physiologists, occupational therapists and speech therapists.¹ The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Please visit Mito Foundation: Find A Health Professional to request access to a directory of health professionals who have experience seeing individuals with mitochondrial disease.

Mito Foundation: Mito Clinics Directory contains information about Australian clinics, listed by state, that are relevant for individuals with mitochondrial disease.

Research

Information regarding research and clinical work in the field of primary mitochondrial disease can be found at Research – Mito Foundation. This includes:

Mito Registry – collects information about Australians with confirmed or suspected mitochondrial disease for the purpose of research into treatments and cures.
Participate in Clinical Studies – studies relevant to individuals with mitochondrial disease

Monash University: The MitoHOPE (Healthy Outcomes Pilot and Evaluation) Program is a pilot introduction of mitochondrial donation into Australian clinical practice. Mitochondrial donation is an assisted reproductive technology which can help some women to avoid transmitting mitochondrial disease to their biological children.

Please visit Australian Clinical Trials to learn about clinical trials for mitochondrial diseases in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for mitochondrial diseases in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Mito Foundation RVA Partner Australian Organisation
Website: https://www.mito.org.au/contact/
Phone: 1300 977 180
Email: [email protected] (for general enquiries)
[email protected] (for support enquiries)

The Mito Foundation is the only organisation dedicated to supporting and empowering people impacted by mitochondrial disease (mito) in Australia. It provides resources and support services for people impacted by mito, and their families, while increasing awareness and understanding of this devastating disease. The foundation aims to transform outcomes for the mito community by driving meaningful change and funding essential research into the prevention, diagnosis, treatment and cures of mitochondrial disorders.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

Please visit Mito Foundation: MitoHub for people impacted by mitochondrial diseases. Support services provided by Mito Foundation include:

Helpline – to talk to a support officer for general advice, assistance in seeking a referral or more information on Mito Foundation support services
NDIS Navigation Service – to access education, resources and one-on-one guidance to NDIS supports and services through working with a NDIS navigator
Pathways Telehealth Nurse Program – to work with a Pathway Telehealth nurse to develop a tailor-made care plan for support, education and connection with other services
Peer Support – to connect with another person impacted by mito
Mito Connect Events – to join an upcoming event to find out more about mito

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Mito Foundation: Psychological Impacts of Mito provides information relevant to the mental wellbeing of individuals with a mitochondrial condition diagnosis.

Other

Further information related to mitochondrial diseases can be found at:

References

Australian Mitochondrial Disease Foundation Ltd. (Mito Foundation). Accessed 28 December 2023. https://www.mito.org.au/
Sue CM, Balasubramaniam S, Bratkovic D, et al. Patient care standards for primary mitochondrial disease in Australia: An Australian adaptation of the Mitochondrial Medicine Society recommendations. Intern Med. J. 2021; 52:110-120. https://doi.org/10.1111/imj.15505
Genetic and Rare Diseases (GARD) Information Center. Mitochondrial genetic disorders. Accessed 16 January 2024. https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders
Australian Mitochondrial Disease Foundation Ltd. (Mito Foundation). Mitochondrial Disease – Guide for Health Professionals. 2023. 16 p. https://www.mito.org.au/wp-content/uploads/2023/05/Mitochondrial-Disease-Health-Professionals-Guide.pdf
Ng YS, Turnbull DM. Mitochondrial disease: genetics and management. J. Neurol. 2016;263:179-191. https://doi.org/10.1007/s00415-015-7884-3

Page Last Updated

28/03/2024 14:23