We All Have Mitochondria
Mitochondria are vital to nearly every cell in the human body. These tiny powerhouses are responsible for creating 90% of the energy necessary to sustain life and support proper organ function. Without functioning mitochondria, our bodies cannot generate the energy required for survival.
What Is Mitochondrial Disease?
Mitochondrial disease occurs when these essential structures cannot efficiently convert food and oxygen into life-sustaining energy. This breakdown in energy production leads to cell injury, and in some cases, cell death. When cells across the body begin to fail, the affected organ systems can malfunction or even shut down entirely.
Why Do Mitochondria Malfunction?
There is much still to discover about mitochondrial disease, but we know it is an inherited condition. Mitochondria can also be damaged by other genetic disorders and various environmental factors. Every 30 minutes, a child is born who will develop a mitochondrial disease by the age of 10, highlighting the critical need for greater awareness and research.
How Mitochondrial Disease Affects the Body
Since mitochondria are crucial for energy production, the parts of the body that demand the most energy—such as the heart, brain, and muscles—are the most vulnerable. People living with mitochondrial disease may experience a wide range of symptoms, depending on the organs affected.
Brain
- Developmental delays
- Dementia
- Migraines
- Seizures
- Stroke
- Learning disabilities
Muscles
- Weakness or failure
- Cramping
- Reflux
- Hypotonia (reduced muscle tone)
- Digestive issues (constipation, diarrhea, dysmotility)
Nerves
- Fainting
- Heat and cold intolerance
- Pain
Pancreas
- Diabetes
- Pancreatic failure
- Parathyroid dysfunction
Kidneys
- Renal tube failure
Heart
- Heart defects
- Cardiomyopathy (disease of the heart muscle)
Liver
- Low blood sugar
- Liver failure
Eyes
- Vision loss
- Ptosis (drooping eyelids)
- Optic atrophy (nerve damage)
- Strabismus (crossed eyes)
Ears
- Hearing loss
Systemic Issues
- Fatigue
- Failure to gain weight
- Respiratory issues
- Short stature
Getting a Diagnosis
A correct diagnosis for mitochondrial disease is challenging due to its wide range of symptoms, many of which overlap with other common conditions. Experts in neurology and genetics are often the first to suspect mitochondrial disease and recommend testing. Cardiologists and endocrinologists may also raise concerns based on patient symptoms.
According to the Mitochondrial Care Network, some common diagnostic tests include:
- Blood and urine tests to check amino acids, acylcarnitines, lactate, pyruvate, and organic acids
- DNA testing
- Muscle biopsy (usually from the thigh)
If you or someone you know is experiencing unexplained symptoms affecting multiple organ systems, it may be worth consulting a specialist familiar with mitochondrial disease diagnosis.
Progressing Patient Care
Although there is currently no cure for mitochondrial disease, treatments, vitamins, and dietary supplements can help manage symptoms and potentially slow the disease's progression. However, the effectiveness of these interventions varies greatly from patient to patient. Funding research into mitochondrial disease and clinical trials offers the best hope for advancing patient care and eventually finding a cure.
At Princeton Integrative Health, we’re committed to raising awareness and supporting those affected by mitochondrial disease through education and research. As we observe Mitochondrial Disease Awareness Week, we encourage you to spread the word and help support the fight for better diagnostics, treatments, and, ultimately, a cure.
For more information on how we can support your health, follow us on Facebook and Instagram or reach out to request a complimentary consultation.