Do you feel tired all day long and have no energy to do anything? We often think that it is because we work too much, we don’t eat right, or we don’t get enough sleep. But, did you know that there may be a deeper reason for all of this inside our bodies? Have you heard of the little energy factories in our bodies? These are what we call mitochondria. If these are not working properly, big problems can arise that we don’t even think about. So let’s talk about this in detail and very simply today.
What are these mitochondria?
Simply put,
mitochondria are like little engines or power plants in almost every cell in our body. Imagine, if our body were a big city, these mitochondria are the power plants that provide electricity to that city. Using the food we eat and the oxygen we breathe, these little mitochondria produce 90% of the energy our body needs to run, jump, think, work,
and in short, live. Especially in organs that work constantly and require more energy, such as our
heart, brain, and muscles, there are thousands of these mitochondria. Because those organs need more 'current' than others.
So what are these mitochondrial diseases?
Imagine, what would happen if those power plants I mentioned suddenly stopped working properly and stopped producing enough energy? The whole city would go dark, and our body's functions would also be impaired. That's when conditions called
'Mitochondrial Diseases' arise. These are usually
chronic , meaning they can last a lifetime. Most of the time, they are genetic, meaning
they are inherited from parents to children. Sometimes these symptoms can be present at birth, and other times they can appear later in life.
What are the causes of these diseases?
Most of the time, the main reason for this is genetic. That is, some defects in the genes we inherit from our parents. This can happen in several main ways.
| Inheritance Type | Simply put... |
|---|
| Autosomal Recessive Inheritance | In this case, the child inherits a defective gene (mutated gene) from both the mother and father. Then, each child in the family has a 25% chance of developing the disease. |
| Autosomal Dominant Inheritance | What happens here is that the child inherits a defective gene from only one parent, either the mother or the father. Then, each child in the family has a 50% chance of developing the disease. |
| Mitochondrial Inheritance | This one is a little special. Mitochondria have their own DNA. In this inheritance, a mother with defective mitochondria has a 100% chance of all her children inheriting this disease. |
| Random Mutations | Very rarely, a mutation can occur when a child's genes are newly formed, without any fault on the part of the parents. |
Additionally, mitochondrial dysfunction can be associated with certain medical conditions, such as Alzheimer's disease, muscular dystrophy, diabetes, and some types of cancer.
What are the symptoms of these diseases?
This is where many people get confused. The symptoms of these diseases can vary greatly from one person to another. The reason is that the symptoms vary depending on the organ in the body that is affected. While some people have
very mild symptoms, others can have severe ones.
These symptoms can appear at any age. Also, because these symptoms are similar to those of other common diseases, it can sometimes be difficult to diagnose the disease.
The table below shows some of the symptoms that may occur.
| Affected system/organ | Possible symptoms |
|---|
| Growth and muscles | Stunted growth, muscle weakness, and fatigue during exercise. |
| Brain and nerves | Learning disabilities, developmental delays, autism spectrum disorder, migraines, seizures, stroke, and dementia. |
| Sensory organs | Vision and hearing impairments. |
| Internal organs | Heart, kidney or liver disease, diabetes, thyroid problems. |
| Digestive system | Difficulty swallowing, stomach ache, diarrhea or constipation, vomiting. |
How to diagnose the disease?
As I mentioned before, the symptoms of these diseases can be very different, so it can be a bit difficult to figure out exactly what the disease is.
It can't be diagnosed with a single test. That's why a doctor examines a patient and sends them for a series of different tests.
Commonly performed tests
- A careful review of the family's medical history .
- Performing a complete physical and neurological examination .
- Identifying chemical changes in the body through blood and urine tests (Metabolic exam).
- MRI scan (especially for brain problems).
- An ECG (Electrocardiogram) or Echocardiogram test to check the functioning of the heart.
- Special DNA tests to identify genetic defects .
- In some cases, it may be necessary to take a small piece of muscle or skin for testing (biopsy) .
What are the treatments for this?
A question that many people ask is whether there is a complete cure for this. To be honest,
there is no specific cure for mitochondrial diseases yet. But, don't be afraid of that. There are many treatments available to control symptoms and slow down the progression of the disease. Treatment depends on the patient's disease, the organs affected, and the severity of the disease. Even if two people with the same disease have the same treatment, it may not work the same way.
Some of the main treatment methods:
- Vitamins and supplements: Some vitamins help with mitochondrial function.
- Exercise: Especially muscle-strengthening exercises. These should be done under the guidance of your doctor or physical therapist.
- Physical therapy , occupational therapy, and speech therapy : These help the patient perform daily activities more easily.
Also, patients are advised to stay away from certain things. For example, it is very important to avoid things like exposure to extreme cold or heat, being hungry, not getting enough sleep, stress,
smoking, and alcohol consumption .
Take-Home Message
- Mitochondria are like tiny power plants that provide energy to the cells in our body.
- Diseases caused by dysfunction of these are usually long-term and often inherited genetically.
- Symptoms are very diverse and can include muscle weakness , stunted growth, vision and hearing impairment, and heart disease.
- Although there is no specific cure for these diseases, you can live a good life by controlling the symptoms and adjusting your lifestyle.
- If you or someone in your family has this condition, it is very important to talk to your doctor about genetic counseling before having children. The best thing to do is not to panic, but to get proper medical advice.
Mitochondria, Mitochondria Disease, Mitochondrial Disease, Genetic Disease, Energy, Cells, Symptoms, Treatment
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