We believe in the power of community and compassion. Each day, children with mitochondrial disease and their families face immense challenges, but together, we can make a difference 💚
Need Any Help?
450 641-1115
theliamfoundation2013@gmail.com
Mitochondrial disease

What is Mitochondrial Disease?

Mitochondrial disease occurs when the mitochondria in the body’s cells can no longer produce adequate energy. This can lead to the failure of individual cells and, eventually, the malfunction of entire organ systems. Given that mitochondria are involved in nearly every bodily function, this disease can affect multiple organs and systems simultaneously, making it difficult to diagnose and treat.

The condition is typically inherited and can be caused by mutations in either the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA) that controls mitochondrial function. There are also environmental factors, like toxins, that can damage mitochondria and contribute to the disease. The severity and specific symptoms of mitochondrial disease vary significantly from one individual to another, making each case unique.

Understanding-the-Genetic-Basis-of-Mitochondrial-Disease

The Importance of Mitochondria in the Human Body

Mitochondria are tiny but essential structures within almost every cell of the human body. Known as the “powerhouses” of the cell, they are responsible for producing up to 90% of the energy the body needs to sustain life and support essential functions. From your brain to your muscles, every organ relies on mitochondria for the energy required to perform daily tasks.

In a healthy body, mitochondria convert the food we eat and the oxygen we breathe into adenosine triphosphate (ATP), the energy molecule that fuels everything from muscle contraction to nerve transmission. However, when mitochondria malfunction due to genetic mutations or environmental damage, this process can be severely disrupted. The result is mitochondrial disease, a condition that affects cellular energy production and can lead to multi-organ failure.

Every 30 minutes, a child is born who will develop mitochondrial disease by the time they reach 10 years old.

Mitochondrial disease

Symptoms of Mitochondrial Disease

The disease can affect any part of the body, but it tends to hit organs that require a lot of energy the hardest. This includes the heart, brain, muscles, and nerves, but other organs such as the liver, pancreas, and kidneys can also be affected.

The Impact of Mitochondrial Disease on the Body

Brains Symptoms

  • Developmental delays
  • Seizures
  • Learning disabilities
  • Migraines
  • Stroke-like episodes
  • Dementia
The brain is highly dependent on mitochondrial energy, so when mitochondria fail, it can lead to severe neurological symptoms. Children with mitochondrial disease often exhibit developmental delays, difficulty learning, and are at higher risk for seizures.

Muscles Symptoms

  • Muscle weakness
  • Hypotonia (decreased muscle tone)
  • Exercise intolerance
  • Cramps and muscle pain
Muscle cells require large amounts of ATP for contraction. When mitochondria are not working correctly, muscles can become weak, cramp easily, and tire quickly. This often leads to motor function issues and physical limitations in affected individuals.

Nerves Symptoms

  • Peripheral neuropathy (numbness, tingling, and pain in the extremities)
  • Autonomic dysfunction (problems with heart rate, digestion, and blood pressure)
  • Loss of reflexes
Nerve cells also require a lot of energy, and mitochondrial disease can damage the peripheral nervous system, leading to pain, weakness, and difficulty with movement.

Heart Symptoms

  • Cardiomyopathy (weakening of the heart muscle)
  • Heart block (abnormal heart rhythms)
  • Heart failure
Since the heart is one of the most energy-demanding organs in the body, mitochondrial disease often leads to serious heart problems. Cardiomyopathy and heart failure are common and can be life-threatening without proper management.

Liver and Kidneys Symptoms

  • Liver failure
  • Renal tubular dysfunction
  • Low blood sugar
Both the liver and kidneys rely on healthy mitochondria to perform their detoxifying and regulatory functions. Mitochondrial disease can lead to kidney dysfunction and liver failure, contributing to severe metabolic imbalances like low blood sugar.

Pancreas Symptoms

  • Diabetes
  • Pancreatic failure
Mitochondrial dysfunction in the pancreas can lead to insulin production issues, causing diabetes and other metabolic disorders.

Eyes and Ears Symptoms

  • Vision loss
  • Hearing loss
  • Strabismus (crossed eyes)
  • Retinitis pigmentosa (degenerative eye disease)
The sensory organs are also affected, which can lead to vision and hearing impairments. Optic atrophy (degeneration of the optic nerve) is common in patients with this condition.

Understanding the Genetic Basis of Mitochondrial Disease

Mitochondrial disease is primarily a genetic condition, passed down from parents to their children. Mitochondrial DNA is inherited only from the mother, meaning if a woman has a mutation in her mitochondrial DNA, all her children will inherit it. However, mitochondrial disease can also be caused by mutations in nuclear DNA, which is inherited from both parents.

There are over 250 genes associated with mitochondrial function, and mutations in any of these genes can result in mitochondrial disease. This genetic complexity is part of what makes the disease so difficult to diagnose and treat. For a more in-depth look into the genetics of mitochondrial disease, check out our mission page to learn about our research efforts.

When three or more organ systems are affected, it could be a critical indicator of mitochondrial disease.

Types of Mitochondrial Disease

There are different type of mitochondrial diseases, each presenting a unique combination of symptoms. Some of the most common include:

  • Leigh Syndrome: A severe neurological disorder that primarily affects infants and children. Symptoms include loss of motor skills, seizures, and respiratory problems.

  • MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes): This condition is characterized by stroke-like episodes, muscle weakness, and learning disabilities.

  • Kearns-Sayre Syndrome: A condition that causes progressive weakness in the muscles that control eye movement, as well as heart problems and hearing loss.

Each of these conditions is caused by different genetic mutations, and each presents its own challenges for treatment and diagnosis. 

Mitochondrial disease diagnosis

Due to the wide range of symptoms and the overlap with other conditions, diagnosing mitochondrial disease can be challenging. Most diagnoses are made by specialists such as neurologists, geneticists, or cardiologists.

Common Diagnostic Tests:

  • Blood and Urine Tests: To measure levels of amino acids, lactate, pyruvate, and other substances that indicate mitochondrial dysfunction.
  • DNA Testing: Genetic testing is often used to identify mutations in mitochondrial DNA or nuclear DNA.
  • Muscle Biopsy: In some cases, a muscle biopsy is performed to study the mitochondria in muscle tissue and assess their function.

Since mitochondrial disease affects multiple systems, a diagnosis typically requires a comprehensive evaluation from a team of specialists. 

Mitochondrial Disease Treatments and Latest Research Advances

Mitochondrial diseases are complex disorders resulting from dysfunctional mitochondria—the energy-producing structures within cells. These conditions can affect multiple organs and present a wide range of symptoms, making treatment challenging.

While there is currently no definitive cure for mitochondrial disease, various management strategies and ongoing research offer hope.

Around the world, every 30 minutes, a child is born who will develop a mitochondrial disease by age 10

Current Treatment Options:

  • Symptom Management:

    • Medications: Prescribed to alleviate specific symptoms such as seizures, muscle pain, or cardiac issues.
    • Therapies: Physical, occupational, and speech therapies can enhance mobility, daily functioning, and communication skills.

  • Nutritional Support:

    • Dietary Modifications: Tailored diets may help manage symptoms and improve energy levels.
    • Supplements: Coenzyme Q10, L-carnitine, and certain vitamins are often recommended to support mitochondrial function.

  • Exercise:

    • Regular Physical Activity: Supervised exercise programs can improve muscle strength and endurance, benefiting overall health.

Latest Research and Emerging Therapies:

  • Gene Therapy:

    • Advancements: Researchers are exploring techniques to correct genetic mutations causing mitochondrial diseases. Clinical trials are underway to assess the safety and efficacy of these approaches. Learn more

  • Mitochondrial Replacement Therapy (MRT):

    • Overview: MRT involves replacing defective mitochondria with healthy ones to prevent the transmission of mitochondrial diseases. This technique is still in the experimental stage and raises ethical considerations.

  • Pharmacological Interventions:

    • Sonlicromanol: This investigational drug aims to protect cells from oxidative stress by interacting with the thioredoxin/peroxiredoxin system. Clinical trials are ongoing to evaluate its potential benefits for patients with mitochondrial diseases. Learn more

  • Nutritional Therapies:

    • Pyruvate Therapy: Studies suggest that pyruvate supplementation may enhance energy production in individuals with mitochondrial dysfunction. Further research is needed to confirm its effectiveness.

While managing mitochondrial disease can be challenging, ongoing research and emerging therapies offer hope for improved treatments in the future. Staying informed and working closely with healthcare professionals can help individuals navigate their care effectively.

Donate for the cause today

Frequently Asked Questions About
Mitochondrial Disease

Mitochondrial disease refers to a group of disorders caused by dysfunctional mitochondria, the energy-producing structures in cells. These dysfunctions can lead to insufficient energy production, affecting various organs and systems in the body.

Mitochondrial diseases are primarily caused by genetic mutations. These mutations can occur in mitochondrial DNA (mtDNA) inherited maternally or in nuclear DNA (nDNA) inherited from both parents. Environmental factors may also contribute to mitochondrial dysfunction.

Symptoms vary widely but often include muscle weakness, neurological issues (such as seizures or developmental delays), heart problems, vision and hearing impairments, and gastrointestinal difficulties. The severity and combination of symptoms differ among individuals.

Diagnosis involves a combination of clinical evaluations, laboratory tests (including blood and urine analyses), genetic testing, and sometimes muscle biopsies. Specialists like neurologists and geneticists typically oversee the diagnostic process.

Currently, there is no definitive cure for mitochondrial disease. Treatment focuses on managing symptoms and may include medications, dietary supplements, physical therapy, and other supportive measures. Ongoing research aims to develop more effective therapies.

Inheritance patterns vary. Mutations in mtDNA are passed from mother to child, as only eggs contribute mitochondria to the embryo. Mutations in nDNA follow Mendelian inheritance patterns and can be passed from either parent.

Individuals with a family history of mitochondrial disease are at higher risk. However, spontaneous mutations can also lead to the disease, meaning it can occur without a known family history.

While lifestyle changes cannot cure the disease, maintaining a balanced diet, engaging in appropriate physical activity, and avoiding environmental toxins may help manage symptoms and improve quality of life.

Research is exploring gene therapy, mitochondrial replacement techniques, and new medications aimed at enhancing mitochondrial function. Clinical trials are ongoing to evaluate the safety and efficacy of these potential treatments.

Resources

Resources for Families

The Liam Foundation is committed to supporting families affected by mitochondrial disease by providing resources, access to specialists, and community support. Whether you’re looking for a doctor, seeking information about treatments, or simply need emotional support, we’re here to help. 

At The Liam Foundation, we are dedicated to raising awareness, funding research, and providing critical resources to those affected by mitochondrial disease. Together, we can work towards finding better treatments and, one day, a cure.

For more information, visit our What We Do and Get Involved by donating to our cause and the research for a cure for the Mitochondrial Disease.

If you have any question you can also contact us with the form and a member of our team will respond to you as soon as possible.