Mitochondria are a popular topic these days…and for good reason. Mitochondria are organelles within our cells. Their job is to make energy, in the form of a molecule called adenosine triphosphate (ATP). Our body uses this ATP to perform almost all of its many functions. Thus, mitochondria are critical to almost every biological system within our body. Dr. William Gahl of the National Human Genome Research Institute said it well:

“…we probably don’t know all of the different diseases that mitochondrial dysfunction causes.”

-Dr. William Gahl

Mitochondria are important organelles for another reason as well: they have their own DNA. While the majority of DNA in our bodies is contained with the nucleus of our cells, each mitochondrion has its own circular genome containing roughly 16,500 nucleotides. In total, mitochondrial DNA (mtDNA) encodes for 25 RNAs and 13 protein subunits. All of these RNAs and proteins are directly involved in oxidative phosphorylation, the process that produces ATP.

Variants in mtDNA have been associated with several mitochondrial-specific rare diseases such as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) and myoclonic epilepsy with ragged red fibers (MERRF syndrome). However, polymorphisms in mtDNA have also been associated with a wide range of extremely common diseases and morbidities including:

  • Alzheimer’s Disease
  • Huntington’s Disease
  • Amyotrophic Lateral Sclerosis (ALS)
  • Type 2 Diabetes
  • Heart Failure
  • Heart Disease
  • Cancer

Interestingly, unlike nuclear DNA, which is inherited from both biological parents, mtDNA is inherited only from one’s biological mother. This means that knowing the information contained in our mitochondrial genome not only can provide key insights into our individual health profiles but also offer important information on the hereditary nature of a disorder. GeneSavvy is unique among commercial genetic testing companies in that we offer whole mitochondrial genome sequencing for every client that orders a GeneSavvy Starter Kit. We would love to start working with you on your journey towards optimal health!

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