Thoughts on Mitochondrial Dysfunction

I had a patient ask me an interesting question some 6 years ago: “What do you think is the most important medical development that you’ve learned about in the past year?” At the time, because I had just returned from an ACAM conference and heard a presentation by Dr. Michael Holick, MD, I responded: “The importance of Vitamin D deficiency in disease, how human levels are lowered by sunscreen use and  sedentary living indoors, and why it is important to keep Vitamin D in a healthy range.”  I meant it, so much so it was the cover story of my newsletter back then with the headline “Here Comes the Sun – And I Say It’s Alright!”, but he seemed caught off guard, expecting an innovative surgery or new genetic discovery I suppose.  Of course, now the Vitamin D story has been told, the bandwagon has been weighed down with all the converted, and more frequently we are hearing about disease connections related to D deficiency (although I remain cautious about massive oral doses, the subject of another blog perhaps).

What’s my point? Well, I like his question, and ask myself the same one in my head periodically: “What’s an important medical discovery that you’ve learned for yourself recently, John?” I like to answer with a theory or discovery that applies to my daily practice, something measurable and that is changeable – something that affects a cross-section of illness that, when treated, can have a profound impact on human suffering.  My answer is the subject of today’s blog: mitochondrial dysfunction, its impact on disease, and what I’ve discovered can be done about it in my patient population. I present some concepts in simplistic form.

I sketched the mitochondrion in Cell Biology on a large bristol board in 2nd Year University.  I loved studying the cell back then, adored biology, and spent countless hours perfecting my drawing of a human cell.  It’s ironic that 25 years later I’m writing about this cell organelle as a medical doctor (and looking at cells every day under a microscope!)

The mitochondria are the little power plants suspended in each cell alongside other cell parts like the nucleus.  There may be 2500 of them in a single cell (except RBC’S). An important mitochondria task is to make the energy used to power cell functions, and in turn required by tissues and organs for proper functioning.  They are important for brain, muscle and heart function in particular, as these organs utilize the most energy. On the folded membranes and in the matrix of a mitochondrion, units of energy are made after conversion from foods we eat, in a cascading of biochemistry known as Krebs Cycle and the electron transport chain. Nutrients are needed as cofactors in the cycle, oxygen is required, and contaminants like mercury, lead or pesticides can damage the membranes such that the processes slow down, energy is depleted and/or cells die.  This in turn leads to poorly functioning organs.  For the brain, this means impaired learning, decreased executive functioning, poor attention, speech and language dysfunction, and so on. This occurs because the brain disproportionately requires more energy and oxygen than the other organs do.

What’s interesting about mitochondria, as Figure 1 shows, is the presence of its own DNA, separate from the DNA housed in the nucleus of the cell.  Mitochondrial DNA can mutate and be damaged, in a fashion that impacts energy production, by toxins, viruses or radiation.  An important process in DNA damage and membrane leakage, leading to cell damage and death, is oxidative stress – accelerated by pollution of all kinds, and exacerbated by antioxidant deficiencies.

In my medical clinic, the practical application of these concepts translates first into a requirement to test for mitochondrial dysfunction, as I seek to manage developmental issues in children, particularly autism and global developmental delay.  And just like my testing of Vitamin D, when I too often found easily correctable deficiency, I often discover evidence for mitochondrial dysfunction in children with neurodevelopmental issues. The next step is to provide the nutrient co-factors that improve energy production in the brain and muscle, while simultaneously addressing pro-oxidant exposure in a child’s diet, intestinal and other tissues, home, and immediate environment. The mitochondria can be sped up, protected from damage, or increased in numbers to meet energy demands in vital organs like the brain. The results I’ve observed to date include: improved cognitive functioning, increased endurance, better muscle tone, and more easily attainable developmental milestones.

Just like the Vitamin D story, starting out as an alternative view prior to becoming conventional practice, mainstream medicine will look to the mitochondria in the future to explain autism and other neurologic diseases, like Parkinson’s Disease, syndromes like Chronic Fatigue and Fibromyalgia, and I suspect cardiac cases as well.  It is a fruitful place to look, since it explains what I have always felt to be true: that much human illness, organ dysfunction and premature aging occurs at the interface between nutrient deficiency and toxic overload, with this organelle’s dysfunction acting as a major player.