What are Mitochondrial Disorders?

What are Mitochondria?

  • Mitochondria are structures found in almost every cell in the body.
  • They produce chemical energy, commonly referred to as the "powerhouse of the cell."
  • Mitochondria are necessary in the body to sustain life and support growth.
  • When mitochondria fail, less and less energy is generated within the cell. As a result, whole systems begin to fail, and the health of the person in whom this is happening is severely compromised.

What are Mitochondrial Disorders?

  • Mitochondrial disorders occur in approximately 1 of every 4,000 individuals.
  • Mitochondrial disorders are chronic, genetic disorders that occur when the mitochondria of the cell fails to produce enough energy for cell or organ function.
  • There are many types of mitochondrial disorders and they present very differently from individual to individual.
  • Symptoms typically involve multiple systems of the body.
  • Symptoms are often intermittent, worsening under times of high energy demand such as physical or emotional stress, infection, and while undergoing medical procedures.

What are the Symptoms of Mitochondrial Disorders?

The severity of mitochondrial disorders is different from person to person.

Common symptoms include:

  Seizures and other neurological problems
 Muscle weakness, poor muscle coordination
Autism spectrum disorders, autistic-like features
Poor growth, failure to thrive
Developmental delays, learning disabilities
Delayed gastric emptying
Chronic diarrhea or constipation
Cyclic vomiting
Heart, liver or kidney disease
Visual and/or hearing problems
Thyroid and/or adrenal dysfunction

What Causes Mitochondrial Disorders?

Nuclear DNA

  • DNA is contained in the nucleus of the cell.
  • Makes proteins that work within the mitochondria.
  • Nuclear DNA is inherited from both the mother and the father.
  • Gene trait may be dominant or recessive.

Mitochondrial DNA

  • DNA is contained in the mitochondria.
  • All mitochondrial DNA is inherited from the mother.
Making a molecular diagnosis of mitochondrial disease requires the identification of DNA abnormalities (mitochondrial and/or nuclear) that are known to cause disease.

Courtagen mitochondrial testing available:

mtSEEK® Mitochondrial Genome Sequencing with Deletion Detection and Heteroplasmy Analysis (37 mt genes)

nucSEEK® Comprehensive Sequence Analysis of the Nuclear Mitochondrial Exome (1192 nuclear genes)

How is genetic testing helpful?

Results from Courtagen’s nucSEEK® and mtSEEK® tests may identify known disease causing mutations in the nuclear DNA or in the mitochondrial DNA. A genetic diagnosis may provide knowledge about the progression of the disease, guide targeted treatments, and determine whether other family members should be tested.