Do you sometimes wonder why I'm so tired? Or does anyone in your family have more than one health problem, and it's hard to find a clear reason for it? Sometimes the reason for this can be a change in one of the smallest things inside our bodies. Today we're going to talk about something a little more complicated, but very important to know. That is Mitochondrial Diseases.
What are these mitochondria? A "powerhouse" of the body?
Simply put, mitochondria are the tiny power plants inside every cell in our body. They are like a power station that generates electricity to power our homes. Using the food we eat and the oxygen we breathe, these mitochondria produce 90% of the energy our bodies need to function. Just think, our brains need energy to work, our hearts need energy to beat, our muscles need energy to function. Mitochondria are the main source of that energy. That's why they're called the "powerhouse of the cell."
So what are mitochondrial diseases?
Now you understand how important mitochondria are. So, if these power plants called mitochondria do not work properly, or if they cannot produce energy as needed, the diseases that occur are called mitochondrial diseases. Just as if the power station breaks down and all our work stops without lights, if mitochondria do not produce energy properly, the organs of our body cannot do their jobs.
These diseases can affect any part of the body. For example:
- In the brain
- Nervous system
- Muscles
- Kidneys
- Heart
- Liver
- Eyes
- Ears
- Pancreas
Cells can be affected anywhere like this.
Are there types of mitochondrial diseases?
Yes, mitochondrial disease is not one disease, there are many types. These are a bit complicated, and doctors are the ones who diagnose them exactly. But for you to know in general, here are some of the most common types:
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like symptoms (MELAS syndrome)
- Leber hereditary optic neuropathy (LHON)
- Leigh syndrome
- Kearns-Sayre syndrome (KSS)
- Myoclonic epilepsy and ragged-red fiber disease (MERRF)
These names may sound a little strange, but these are the names that these diseases are known by in medical science.
How common are these diseases?
It is estimated that about one in every 5,000 people may have a genetic mitochondrial disease. But this is a bit of a complicated issue. Because the symptoms of these diseases are so diverse and affect different organ systems in the body, it can sometimes be late to diagnose the disease, or it can be mistaken for another disease. So the actual number of people with this disease is likely to be much higher.
What are the symptoms of mitochondrial diseases?
This is very important. The symptoms of mitochondrial diseases can vary greatly from person to person. Also, the symptoms vary depending on the type and location of cells affected by the disease. For some people, the symptoms can be very subtle, while for others, they can be very severe.
Some of the common symptoms that can be seen are:
- Growth retardation (especially in young children)
- Muscle weakness, muscle pain, or decreased muscle tone
- Vision and/or hearing impairments
- Developmental delays or intellectual development problems (e.g., learning disabilities)
- Stomach problems like diarrhea or constipation
- Vomiting for no reason
- Acid reflux and/or difficulty swallowing
- Having a fit (seizures)
- Migraines
- Difficulty breathing
- Fainting
These symptoms can begin at birth, or they can appear at any age in life. A doctor usually suspects this type of disease when symptoms appear in more than one organ system at the same time. What is surprising is that even people in the same family with the same type of mitochondrial disease can have different symptoms.
Why do these mitochondrial diseases occur?
Simply put, the main cause of mitochondrial diseases is the inability of the mitochondria in our cells to produce enough energy. In order for mitochondria to produce energy, they need to receive the correct instructions from our `DNA` (genes). If there is a change in this `DNA` (doctors call this a `mutation`), the mitochondria do not receive those instructions correctly. Then the production of energy is impaired. This can damage the cells, or the cells can die quickly. This is what affects the functioning of our organs and causes symptoms.
How does someone develop mitochondrial disease?
Mitochondrial diseases are a group of genetic diseases. This means that we can inherit them from our parents. This inheritance can occur in two main ways:
1. Autosomal dominant: This means that the disease can occur even if the altered gene that causes the disease is inherited from only one parent.
2. Autosomal recessive: In this case, the affected gene must be inherited from both parents in order for the disease to occur.
Sometimes, even if no one in the family has had the disease before, someone can develop the disease by chance due to a new genetic change (this is called a `de novo mutation`).
Another special fact is that some mitochondrial diseases are inherited through a `DNA` specific to mitochondria. Yes, you heard that right. In addition to the `DNA` in the nucleus of our cells, mitochondria also have their own `DNA`. Mitochondrial diseases caused by changes in this `mitochondrial DNA` are inherited only from the mother to the child.
Can other medical conditions cause mitochondrial problems?
Yes, it's called secondary mitochondrial dysfunction . This is when the mitochondria don't work properly because of another disease or condition. Some of the diseases that can cause this are:
- Alzheimer's disease
- Muscular dystrophy
- Type 1 diabetes
- Multiple sclerosis (MS)
- Cancer
If you have secondary mitochondrial dysfunction, it is not a genetic mitochondrial disease.
What are the risk factors for developing mitochondrial diseases?
If someone in your family has this disease, or if you have another condition that causes secondary mitochondrial dysfunction, you are at increased risk of developing mitochondrial disease. These diseases can affect both adults and young children.
What are the possible complications of these diseases?
Mitochondrial diseases can affect the function of our organs, leading to various complications. For example:
- Higher risk of infection
- Strokes
- Pancreatic failure
- Parathyroid failure
- Diabetes
- Liver failure
- Cardiomyopathy
- Kidney disease
- Dementia (memory and intelligence impairment)
- Gastrointestinal conditions
- Drooping eyelid (Ptosis)
Some of these complications can even be life-threatening, so it's very important to be aware of this.
How is mitochondrial disease diagnosed?
This is a somewhat complicated process. A doctor diagnoses mitochondrial disease after a series of tests. These may include:
- A thorough review of your medical history and family medical history.
- A complete physical examination.
- A neurological examination.
- A metabolic examination, which includes blood and urine tests. If necessary, a cerebrospinal fluid test (also known as a spinal tap) may also be performed.
- DNA testing.
Depending on your symptoms and the parts of your body that are affected, more specific tests may be done. For example:
- If there are symptoms of nervous system problems, MRI (Magnetic Resonance Imaging) or MRS (Spectroscopy) tests may be performed.
- A retinal exam or ERG (Electroretinogram) test is performed to check for vision problems.
- EKG (Electrocardiogram) or Echocardiogram tests for heart-related symptoms.
- An `Audiogram` test for hearing problems.
- An `EEG (Electroencephalogram)` test is done to look for brain-related problems as the fit approaches.
More advanced tests may include biochemical testing, which looks for changes in the body's chemicals involved in energy production. Sometimes, a doctor may take a small sample of your skin or muscle tissue (a biopsy) and examine it under a microscope.
Is it difficult to diagnose mitochondrial diseases?
Yes, diagnosing mitochondrial diseases can sometimes be challenging. This is because these diseases affect many different organs and tissues in the body, and the symptoms are so varied. There is no single lab test that can tell you for sure if you have this disease. That is why it is so important to seek a diagnosis from a doctor who specializes in these diseases.
How are mitochondrial diseases treated?
Treatment for mitochondrial disease varies depending on the type of disease and your symptoms. Treatment may include:
- Using medications to reduce symptoms. For example, medication to stop the fit from coming.
- Taking vitamins or nutritional supplements. For example: Riboflavin, Coenzyme Q10, Carnitine.
- Changes in diet (nutrition) and exercise.
- Physical therapy, occupational therapy, or speech therapy.
- Wearing assistive devices such as hearing aids.
Unfortunately, there is currently no cure for mitochondrial disease. Treatment is primarily aimed at preventing life-threatening complications and improving quality of life by controlling symptoms. What works for one person may not work for another, even with the same disease.
Are there any side effects of the treatment?
Yes, as with any treatment, there are potential side effects. It is important to discuss these with your doctor before starting treatment. This will help you understand the specific side effects of the treatment you are receiving and what to expect.
Can mitochondrial diseases be prevented?
There is currently no known way to prevent genetic mitochondrial disease. However, if you have the disease, you can avoid some of the things that can make your symptoms worse. For example:
- Exposure to extreme cold and/or heat.
- Skipping meals.
- Not getting enough sleep.
- Stress.
Sometimes a doctor may advise you to conserve your energy. That means not using up all your energy in a short period of time.
How long can you live with mitochondrial disease?
Your doctor can best answer this question. This depends on your symptoms, the organs affected, and your general health. Some children and adults live a normal life span, just like someone without the disease. For others, their health can change dramatically in a short period of time. For some, symptoms may flare up periodically throughout their lives. Although there is no cure for mitochondrial diseases, research is ongoing to find out more.
When should I see a doctor?
If your mitochondrial disease symptoms are affecting your daily activities to the point where you can't function normally, be sure to see a doctor. If you experience severe symptoms, such as a seizure or difficulty breathing, call 911 or your local emergency number immediately.
What questions should I ask my doctor?
You can ask your doctor questions like these:
- What type of mitochondrial disease caused my symptoms?
- What kind of treatment do you recommend?
- Are there any side effects of the treatment?
- How often should I take vitamins or supplements?
- What kind of diet do you recommend?
- How can I save my energy?
- Are there support groups for people with mitochondrial diseases?
Finally, things to remember (Take-Home Message)
Finding out that you or a loved one has mitochondrial disease can be a difficult decision. Because the disease can affect many systems in the body, you may need to make changes to your lifestyle. But remember, you are not alone. In addition to the support of your family and friends, your healthcare team can also help you navigate this diagnosis and treatment options.
Although there is no cure for mitochondrial disease, treatment can help reduce symptoms and slow the progression of the disease. The most important thing is to stay positive, follow your doctor's advice, and live your life to the fullest.
We hope you found this information useful. See you again with more important health information like this!
` Mitochondria, mitochondrial diseases, genetic diseases, cellular energy, energy production, symptoms, treatment
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