Mitochondrial Disorder {overview}

Like a car that stalls and comes to a stop, certain diseases can make the body feel like it has “run out of gas,” too. But while it’s easy to get a car going by filling up the tank, getting the body running again is a lot more complicated. 

Our bodies are fueled by oxygen and the nutrients we get from food. The protein, fats, and carbohydrates we consume go through a chemical process that converts them
to energy, which in turn fuels our cells and keeps us moving and grow 

 

 

hard to diagnose, mis diagnosed - no cure. can treat with envionrment/lifestyle choices. which means even if you don’t have mito - or you may get it some day - healthy lifestyle chocies good for everyone.

What is mitochondrial disease? 

Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy. As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended.

A common misunderstanding is that these disorders are a singular disease, rather than a catagory.  Patients can suffer from a variety of disorders, and still considered to have a mitochondrial disease. A challenge facing those affected by mito is the fact that multiple people in a family can have mito, and may not know it, due to the difficulties associated with diagnosis.  Lack of awareness and understanding of mito may lead to misdiagnosis of symtoms can can have a tendency to come one day, and not be there the next.

The conventional teaching in biology and medicine is that mitochondria function only as "energy factories" for the cell.  This over-simplification is a mistake which has slowed our progress toward understanding the biology underlying mitochondrial disease.These other, non-ATP-related functions are intimately involved with most of the major metabolic pathways used by a cell to build, break down, and recycle its molecular building blocks. 

In the liver, mitochondria are specialized to detoxify ammonia in the urea cycle.  Mitochondria are also required for cholesterol metabolism, for estrogen and testosterone synthesis, for neurotransmitter metabolism, and for free radical production and detoxification.  They do all this in addition to breaking down (oxidizing) the fat, protein, and carbohydrates we eat and drink.

Because mitochondria perform so many different functions in different tissues, there are literally hundreds of different mitochondrial diseases.  Each disorder produces a spectrum of abnormalities that can be confusing to both patients and physicians in early stages of diagnosis.  Because of the complex interplay between the hundreds of genes and cells that must cooperate to keep our metabolic machinery running smoothly, it is a hallmark of mitochondrial diseases that identical mtDNA mutations may not produce identical diseases. 

The converse is also true: different mutations in mtDNA and nDNA can lead to the same diseases. 

Basically everyone is a unique snowflake.

Symptoms

Symptoms of mitochondrial disease can manifest in many different ways and vary in terms of intensity depending on the specific person and which organs are affected. When a large enough number of cells in one organ are damaged, symptoms become noticeable.

It’s possible for mitochondrial disease to affect only one organ or group of tissues in some people, or to affect entire systems in others.

A "red flag" for mitochondrial disease is when a child or adult has more than three organ systems with problems or when a "typical" disease exhibits atypical qualities.

There is no reliable and consistent means of diagnosis.Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis.

Mitochondrial Disease Takeaways

  • Mitochondria disease is actually a term used to group together hundreds of different disorders that all stem from dysfunctions of mitochondria, each one with its own exact cause and symptoms.
  • Mitochondrial disease is often mistaken for another illness or disorder
  • When mitochondria stop working properly, the result is that less energy in the form of ATP is generated within cells, and therefore the whole body usually suffers. 
  • Some people experience debilitating symptoms from mitochondrial disease, like not being able to talk or walk normally, but others live a mostly normal life as long as they take care of themselves carefully.
  • It’s estimated that about one in 4,000 people has a type of mitochondrial disease, which is considered progressive in nature and currently without a cure. (6)
  • Most patients’ symptoms fluctuate over the course of their disease, from severe to being barely noticeable.
  • Older people can develop diseases related to mitochondrial dysfunction, including dementia and Alzheimer’s disease. (8)
  • Mitochondrial disease runs in families to some extent, but it’s also caused by other factors. Family members with the same disorder can experience vastly different symptoms even if they have the same genetic mutations.
  • Affects multiple organs, affects multiple family members, affects multiple generations.
  • Lack of awareness and understanding of the disease.
  • Mitochondrial disease is often an "invisible disease."
  • Mitochondrial disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened.
  • To treat mitochondrial disease, see a doctor for early treatment and management

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Editor’s note: This post is part of The Energy Experiment - it is based on personal experience and shouldn’t be taken as professional or medical advice. Talk to your doctor before starting or stopping any medication or dietary changes. One of the deeper reasons I am doing this experiment is that I have been affected with a mitochondrial disorder and I wanted to see what if any effects the ketogenic diet would have on my symptoms.