Mitochondrial Disease Week: Genetic Tests for Unexplained Fatigue

What Is World Mitochondrial Disease Week?

World Mitochondrial Disease Week is an annual global campaign dedicated to raising awareness about mitochondrial disorders, a group of rare genetic conditions that can cause a wide range of symptoms, including unexplained fatigue. This year's World Mitochondrial Disease Week theme focuses on the importance of early diagnosis and the role of genetic testing in identifying these complex disorders.

During World Mitochondrial Disease Week 2025, let's explore the significance of this awareness campaign, the link between unexplained fatigue and mitochondrial diseases, and the genetic tests available to help diagnose these conditions.

Why Mitochondrial Disease Week Matters

Mitochondrial diseases are often misunderstood and misdiagnosed due to their rarity and the wide range of symptoms they can cause. World Mitochondrial Disease Week aims to increase the public knowledge about these disorders, educate healthcare professionals, and promote access to essential resources, like genetic testing and support networks.

Mitochondrial Disease Week 2025 Theme

The World Mitochondrial Disease Week theme for 2025 is 'Decode The Mito Puzzle — Bridging Science and Symptoms'. It will be held from September 15 to 21, 2025. This emphasises the critical role of genetic testing in diagnosing mitochondrial disorders, particularly in individuals with unexplained symptoms such as persistent fatigue.

By highlighting the power of genetic testing, the World Mitochondrial Disease Week's theme for 2025 aims to encourage early diagnosis and intervention, ultimately improving outcomes for those affected by these conditions.

Unexplained Fatigue – Could It Be More Than Stress?

Fatigue is a common symptom that many people experience due to stress, lack of sleep, or a busy lifestyle. However, when fatigue persists despite rest and is accompanied by other symptoms, it may indicate an underlying disorder, like a mitochondrial disease. Key points to consider:

• Persistent fatigue that doesn't improve with rest or sleep may suggest a deeper issue.
• Additional symptoms like muscle weakness, exercise intolerance, or neurological changes can occur alongside fatigue in mitochondrial disorders.
• A family history of similar symptoms may indicate a genetic or mitochondrial cause.
• Standard medical tests often return normal results, making genetic evaluation crucial for unexplained, chronic fatigue.

Common Misconceptions about Fatigue

Common myths about fatigue include:

Myth: Fatigue is only caused by stress or poor sleep habits.

Fact: While these factors can contribute to fatigue, persistent fatigue may signify an underlying medical or genetic condition, like a mitochondrial disorder.

Myth: If routine blood tests are normal, there's nothing wrong.

Fact: Mitochondrial diseases often don't show up on standard lab tests, and specialised genetic testing may be necessary for diagnosis.

Myth: Chronic fatigue only affects adults.

Fact: Mitochondrial disorders can impact individuals of any age, including children and young adults.

Myth: Fatigue is purely a mental health issue.

Fact: While fatigue can be associated with psychological conditions, there are well-documented biological and genetic causes, such as mitochondrial diseases.

Why Genetic Testing is Highlighted in Mitochondrial Disease Week

During World Mitochondrial Disease Week, the importance of genetic testing is emphasised for several reasons:

• To identify the root cause of symptoms and guide personalised treatment and management strategies.
• To prevent genetic complications and help families make informed decisions about their health.
• To seek genetic counselling and provide support to individuals and families affected by mitochondrial disorders.

The Role of Genetic Tests in Identifying Rare Disorders

For rare conditions like mitochondrial diseases, genetic testing is a powerful tool for diagnosis and understanding the underlying cause of symptoms. Genetic tests can:

• Pinpoint specific mutations in mitochondrial or nuclear DNA that lead to disease.
• Differentiate between various types of mitochondrial disorders, enabling personalised care.
• Rule out other potential causes of symptoms like unexplained fatigue, facilitating faster and more accurate treatment.

Signs You Should Consider Genetic Testing

If you or a family member experiences any of the following, it may be worth discussing genetic testing with your healthcare provider:

• Unexplained, persistent fatigue
• Muscle weakness, neurological symptoms, or exercise intolerance
• A family history of similar symptoms or known mitochondrial disorders
• Involvement of multiple organ systems (e.g., heart, liver, nervous system) without a clear cause
• Normal results from standard medical tests despite significant symptoms

Types of Genetic Tests You Can Take This Week

During World Mitochondrial Disease Week 2025, several genetic testing options are available for mitochondrial disorder screening:

• mtDNA Test (Mitochondrial DNA Test)
• Nuclear DNA testing
• Whole exome sequencing
• Specialised carrier or gene panels

mtDNA Test (Mitochondrial DNA Test)

The mtDNA test is specifically designed to detect mutations within the mitochondrial DNA that can lead to disease. Key points include:

• It can identify known and novel mutations in mtDNA that cause mitochondrial disorders.
• Useful for families with a maternal pattern of symptoms, as mtDNA is only inherited from the mother.
• Results can guide further testing and alert healthcare providers to potential risks in siblings or future generations.

Nuclear DNA Testing

Since many genes in the cell's nucleus also play a role in mitochondrial function, nuclear DNA testing is an important tool for diagnosing mitochondrial diseases. This type of testing:

• Can identify mutations in more than 1,000 nuclear genes linked to mitochondrial disorders
• It is valuable when mtDNA tests are negative.
• Can detect various inheritance patterns

Whole Exome Sequencing

Whole exome sequencing (WES) is a comprehensive genetic test that examines all the protein-coding regions (exons) of the genome.

WES is:

• Useful for complex or atypical cases where standard gene panels don't provide answers.
• Able to identify rare and novel mutations.
• Requires expert interpretation and genetic counselling due to the volume and complexity of data generated.

Special Screenings and Offers During the Awareness Week

During World Mitochondrial Disease Week, some clinics, foundations, and laboratories may offer:

• Discounted or free genetic testing or mitochondrial disorder screenings
• Educational webinars and workshops
• Access to expert consultations

How to Participate in Mitochondrial Disease Week

There are many ways to get involved in World Mitochondrial Disease Week and support the mitochondrial disease community:

Spread the Word

• Share information about mitochondrial diseases and the importance of genetic testing on social media.
• Distribute educational materials in your community or workplace.

Get Tested

• Consult your physician or a genetic counsellor if you have unexplained, persistent fatigue or a family history.
• Take advantage of special offers on genetic testing during awareness week.
• Consider participating in research studies, if eligible, to advance scientific understanding of these conditions.

Support Research and Patient Foundations

• Donate to organisations dedicated to funding mitochondrial disease research.
• Volunteer your time and skills for awareness campaigns or patient support.
• Advocate for increased funding and policy changes.

Conclusion

World Mitochondrial Disease Week is a crucial time to raise awareness about mitochondrial disorders and the importance of genetic testing for individuals experiencing unexplained fatigue and other symptoms.

If you or a loved one is experiencing persistent fatigue or other symptoms that may indicate a mitochondrial disorder, consider Metropolis Healthcare for a range of genetic tests and at-home sample collection services.

FAQs

1. When is Mitochondrial Disease Week celebrated?

World Mitochondrial Disease Week 2025 is going to be held from September 15 to 21.

2. Why is fatigue highlighted during this awareness week?

Fatigue is the most common and often the earliest symptom of mitochondrial diseases, but it is frequently misattributed to other causes, leading to delayed diagnosis and treatment.

3. Are genetic tests for mitochondrial disease expensive?

The cost of genetic testing can vary based on the city and the labs. However, during the awareness week, special programmes make tests more affordable or even free for some individuals.

4. Can these genetic tests be done at home?

Some genetic tests, particularly those using saliva or cheek swab samples, may be initiated at home. But confirmatory testing and interpretation usually require clinical oversight.

5. How can I support Mitochondrial Disease Week?

You can support World Mitochondrial Disease Week by raising awareness, participating in events, sharing educational resources, and considering genetic testing, if appropriate.