Mitochondrial disease refers to a debilitating ailment initiated as a result of dysfunctional mitochondria, which are the energy generators of every cell in the human body. The main role performed by mitochondria is the conversion of components in ingested food, into energy molecules or ATP (adenosine triphosphate), which fuel all the key biochemical reactions within the system.

Mitochondria are present in all types of cells, be it in the heart, brain, lungs, muscles, bones, except for red blood cells. Hence, a serious aberration in mitochondria causes grave consequences in the form of persistent disorders, which hamper daily activities and productivity.

Some forms of mitochondrial disease damage the nerve coordination of muscles and are termed as mitochondrial myopathies, for example, cardiomyopathy. Also Read: Cardiomyopathy: Causes, Symptoms And Treatment

Since the mitochondrial disease is a life-long illness that does not have any effective remedial measures, it is essential to seek immediate medical care once symptoms are recognized in any individual, to ensure appropriate treatment is initiated in a timely manner.
mitochondrial disease


The primary trigger factor of mitochondrial disease is the abnormal changes occurring in the genetic material of cells – mitochondrial DNA. These mutations are often inherited, i.e. passed on from either one or both parents, invariably giving rise to mitochondrial disease in the child.

However, sometimes, exposure to particular pathogens in the environment, toxic effects of drugs or other underlying infections may also give rise to this chronic genetic condition in people.


The characteristic signs of mitochondrial disease comprise:


Since mitochondrial diseases affect so many different organs and tissues of the body with patients exhibiting varying symptoms, mitochondrial diseases can be difficult to diagnose. There is no single laboratory or diagnostic test that can confirm the instance of mitochondrial disease. Consulting with physicians who specialize in these diseases is critical for an accurate diagnosis.

Diagnosis of mitochondrial disease generally includes a series of scans and internal tests:

  • A review of a patient’s family history
  • A complete physical examination
  • A neurological examination
  • A metabolic examination that includes blood and urine tests, and, if needed, a cerebral spinal fluid test (spinal tap)

Other tests, depending on the patient’s symptoms and the areas of the body that are affected, consist of:

  • Magnetic resonance imaging (MRI) for neurological symptoms
  • Retinal exam or electroretinogram (ERG) for vision symptoms
  • Electrocardiogram (EKG) or echocardiogram for symptoms of heart disease
  • Audiogram or auditory-brainstem evoked responses (ABER) for hearing symptoms
  • Blood test to detect thyroid dysfunction if the patient has thyroid problems
  • Genetic DNA testing
  • Biochemical testing, which looks for changes in body chemicals that are involved in energy metabolism
  • Biopsies, i.e. excising samples of skin and muscle tissue


Presently, there is no cure for mitochondrial disease, but treatment can help reduce symptoms and slow down the decline in health. It depends on the specific mitochondrial disease diagnosed in the patient, their age and its severity.

It usually involves the doctor prescribing specific vitamins and supplements, including coenzyme Q10, B complex vitamins. The affected patient is also advised to perform strength training exercises regularly, to increase muscle size and robustness.

Depending on the exact indications, physical therapy and speech therapy might also be recommended, to improve flexibility of motion and sensory, cognitive abilities of the patient.