Mitochontrial medicine


The mitochondria are complex and an understanding of a dysfunction of the mitochondria is not a simple task. But it is an important task because the mitochondria are organelles in each cell that produce energy for all cellular functions.

Mitochondrial disorders are largely due to a defect somewhere along the mitochondrial respiratory chain, which is made up of five enzyme complexes and two other complexes known as coenzyme Q10 and cytochrome c. These defects were once believed to originate from a mutation in the mitochondrial genome, as the mitochondria has its very own DNA. But then it was discovered there are genes in the genetic material of the nucleus of the cell that code for some of these enzyme complexes and therefore there are also nuclear genes that control mitochondrial function.

Due to this dual control of the mitochondrial enzyme chain, defects can be found in either genes of the mitochondria or genes of the nucleus. To add to the complexity, mutations themselves are complex as there are multiple types of mutations and can be either a single gene or more than one gene. Depending on the gene, its location, and the mutation, symptoms may range from known clinical syndromes to yet unknown syndromes to progressive symptoms in isolation. Mitochondria are present in every cell in the body and are numerous in cells that are highly metabolically active such as the brain, heart, and muscles but a dysfunction of mitochondrial physiology can affect any organ.

It is important to distinguish mitochondrial disease from mitochondrial deficit. Disease is from a pathologic mutation and can be very severe and not compatible with continued life. They are usually of early in life onset, are debilitating, and are progressive. A deficit, on the other hand, usually does not declare itself until a later decade in life and can present with a multitude of symptoms that are not necessarily specific, though some are progressive as several neurodegenerative disorders have recently been associated with mitochondrial dysfunction. But systemic symptoms such as fatigue, headaches, dizziness, weakness, and gastrointestinal tract disorders can also be indicative of a failure of mitochondrial energy production.

A deficit that exists can be exacerbated by added stress or burden on the mitochondria that are already working as hard as they can with what they’ve got. We cannot control aging but we can control how we take care of ourselves. Symptoms can be treated but we should boost the effort of the mitochondria by choosing foods bursting with nutrients and, more specifically, contain the co-factors the enzymes of the mitochondria need such as B vitamins and vitamin C, to name a few. Other co-factors may need to be supplemented and a true mitochondrial cocktail contains over 10 different ingredients. We should move each day to challenge them to keep working. We should sleep well so they get lots of restorative time. And we should control stress the best we can with use of adaptogenic plants, meditation, and finding joy each day.

There is so much individual variability that it takes an in-depth understanding of the complexity of these energy powerhouses of our cells. A physician knowledgeable in mitochondrial physiology can be your best defense against the effects of mitochondria that are just not up to par.

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