Your jargon-free guide to Mitochondrial Disease.
*For professional health advice visit the links listed in Useful Info*
Mito (Mitochondrial Disease) is an umbrella term for thousands of rare, diverse, inherited and complex genetic disorders caused when Mitochondria cannot do its job. As Mitochondria (found in cells) is responsible for producing 90% of the energy that the body needs to function, the Mito experience is unique for everybody. When your body doesn’t have access to the amount of energy required to function, problems arise. The symptoms and severity of the condition depend on how many Mitochondria are faulty and where they are in the body, for some, it is mild, or even unnoticeable whilst for others, Mito can be very severe or fatal and it is often misdiagnosed.
Simply put, it is like living on a low battery that won’t charge. Mitochondria is the charger and Mito is when it is broken.
What makes Mitochondrial Disease so complex and why knowledge around it is so little is that it can affect pretty much anywhere in the body. It is at its worst when it is the areas like the brain, muscles, liver, heart and kidney are affected as they need more energy.
One person can have mobility issues and deafness, another has learning disabilities and diabities and another is blind and epilepsy. Without the knowledge of Mitochondrial Disease a doctor could dianogise these three patients with seperate symptoms, but a specialist could see the links and refer the patient for a Mito diagnosis (which can be time consuming).
Some of the most common Mitochondrial Disease’s include Alper’s disease, Leigh’s disease, MELAS and MERRF. There are over 300 Mitochondrial Diseases that have been verified via testing but there are thousands of disorders that are unknown.
Mito is a progressive condition, over time it usually worsens, but the speed of that will differ for everybody. Symptoms can start at any age, causing physical, developmental, and cognitive disabilities. Those with Mitochondrial Disease at a young age are more likely to have severe symptoms, often fatal.
For a professional definition please read this.
Read about Matt’s experience.
Mitochondria are referred to as the “powerhouse of the cell” as they convert food and oxygen into 90% of the energy needed to sustain life, allowing the body to function. If they can’t produce enough energy, cells are injured or die, when this is repeated organ systems start to fail, inevitably they will stop working.
From staying warm to moving, your body needs energy, this comes from carbohydrates, proteins and fats in food, when the Mitochondria (found in nearly every cell (except for red blood cells)) can’t work, the body can’t either. Cells make up tissues (muscles, liver and nerves) and organs (such as the heart and liver). The number of Mitochondria found in a cell is continually changing as they fuse with each other and divide on a regular basis. They have their own DNA, known as mtDNA (the Mitochondria DNA), which is inherited from our mothers, compared to the more common DNA, nuclear DNA, which is inherited from both parents.
As a whole, Mitochondrial Disease isn’t as rare as we think it is (it is actually the most common genetic illness). However, Mito is an umbrella term for thousands of rare disorders (only 300+ have been identified), their symptoms can be dramatically different. What these disorders share in common is that they are caused when Mitochondria can’t perform properly.
It is hard to say how rare Mito is. After researching resources online I have come across conflicting numbers, ranging from 1 in 200 people in the UK carrying faulty mitochondrial genes whilst others say it is 1 in 8000 (making it as common as childhood cancer). It is estimated that every 30 minutes somebody is born who will develop a Mitochondrial disorder by the age of 10.
What makes it even harder to fully understand how prominent Mito is as it tends to be misdiagnosed. As Mitochondrial Disease shares symptoms with other health conditions, Mito is often overlooked. For years this has been an unknown condition and some specialists are still in the habit of saying that they “don’t know” or dismiss it as being “too complex” to understand, despite there being new research and knowledge gained in recent years, making it easier to diagnose.
Some people have symptoms so mild that they will never know that they have it.
The most common Mitochondrial Diseases’ are inherited, you can’t catch it, you are born with it and symptoms can start at any age.
Although it is inherited from the mother’s gene, Mito is passed on to either sex but you are at more risk to develop the condition if it runs in your family.
Looking at numbers, Mito seems to be more common in Europe, the USA and Australia but that is more to with better diagnosis resources being available rather than the condition being selective when it comes to location.
Most Mitochondrial Diseases are genetic, you can inherit these conditions from your biological family (your mother), however, some rarer Mitochondrial Diseases aren’t genetic.
Although there are thousands of Mitochondrial Diseases and countless combinations of symptoms, the one thing that links them together is that they are caused by a mistake in the Mitochondrial DNA.
Mitochondrial Disease can be serious, especially when it is developed at a young age but every experience is different, the severity depends on which and how many cells are affected. If Mitochondria isn’t working in only a few cells symptoms can be mild or don’t show until late life whilst those with a higher number of affected cells have severe, life-limiting symptoms which can be fatal.
When an infant shows Mitochondrial Disease symptoms they might struggle to reach the age of 5.
When it comes to Mitochondrial Disease, diagnosis is still a big challenge but, new research is making it easier and quicker. Symptoms are so broad and often linked to other conditions, leading to misdiagnosis, this can then help spread Mito (if you don’t know about it, you aren’t aware about passing it on to your children). To be diagnosed with a Mitochondrial Disease other conditions need to be ruled out before ending with the correct diagnosis and the process can be time consuming, requiring many tests, which can include:
There are thousands of Mitochondrial Diseases (which is why everyone has their own unique experience), however there are only 300+ Mitochondrial Diseases that have been identified through genetic testing and some are more common than others, these include:
Like the types of Mitochondrial Diseases, the symptoms of Mito come on an extensive and ever-growing list. Some, like fatigue and weakness in muscles are more common as Mitochondria can’t process the energy needed to function but, because Mitochondria powers all of the body, symptoms vary, depending on the cells that are affected and they can be mild to severe (and this can vary day-to-day).
Symptoms include:
Although Mitochondrial Disease has a broad list of symptoms, the lack of energy powering the body to function can expose it to other conditions including:
Having a health condition isn’t easy, leading to mental health issues. Anxiety, OCD and Depression might not be caused by Mitochondrial Disease but they can be caused when living with it.
Again, this depends on which Mitochondrial Disease you have, the symptoms you deal with and its severity. Your health consultants might prescribe you medication to manage the symptoms and vitamin supplements to help with your energy levels. They can recommend diets, refer you to physiotherapists, occupational therapists or speech therapists to help your quality of life levels. They might also suggest that you should avoid extreme cold/heat and stress, and get enough sleep to ensure you have the energy to function.
To put it bluntly, there isn’t a cure for Mitochondrial Disease. However, the fight isn’t over, there is more and more research and testing taking place to find one. Doctors and scientists are understanding more about Mitochondrial Disease now than they did just a few years ago when it was a mystery.
You can’t catch Mitochondrial Disease, you are born with it, which means that if you carry faulty Mitochondria DNA and you are female you can help avoid spreading it further.
We know more about Mitochondrial Disease now than ever, early diagnosis is essential and there are several reproductive choices available so you can grow your family without passing Mito on to the next generation.
Visit The Lily Foundation Reproductive Options Guide for full information.
We are moving in the right direction when it comes to research and there are specialists, projects and plans in place. There is more investment supporting Mitochondrial Disease research centres around the world, who are collaborating with each other so they have access to more data to understand this complex condition better.
Despite being the most common genetic illness Mitochondrial Disease is relatively unknown, even by some health services. The Wellcome Centre in Newcastle have launched the Project PEARL, an initiative created to encourage patients to share their Mitochondrial Disease experience with their local MP. When lots of people do small steps like this, it can lead to big changes. Increasing awareness of Mitochondrial Disease can not only help find a solution but it can also help it spread further.
This information has come from websites including: