What is Mitochondrial Disease? Let's talk about it simply.

Do you sometimes feel like you have no energy, are always tired, and are constantly getting sick? Sometimes, these seemingly unrelated symptoms can be caused by a problem in one of the smallest parts of our body. Today, we are going to talk about a condition that is a bit complicated, but very important to know about. That is Mitochondrial Diseases.

First, let's see, what are mitochondria?

Simply put, mitochondria are tiny "powerhouses" inside every cell in our body. Just like we have a power plant to power our homes, our cells use these mitochondria to generate the energy they need to function. Using the food we eat and the oxygen we breathe, these little factories produce about 90% of the energy our bodies need. So imagine what problems could arise if these power plants weren't working properly.

When these power plants don't work properly, cells don't get the energy they need. Then the organs that contain those cells become dysfunctional. This can affect any part of our body.

• Brain
• Nervous system
• Muscles
• Kidneys
• Heart
• Liver
• Eyes
• Ears
• Pancreas

This can affect anything.

What are the main types of mitochondrial diseases?

There are many types of this disease, but some of the most common are:

• MELAS syndrome (Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes)
• Leber hereditary optic neuropathy (LHON)
• Leigh syndrome
• Kearns-Sayre syndrome (KSS)
• Myoclonic epilepsy and ragged-red fiber disease (MERRF)

This may sound a bit complicated, but remember that these are conditions that cause different symptoms and are caused by changes in mitochondrial function.

What could be the symptoms of these diseases?

This is the most complex part of the disease. Because the symptoms can vary greatly from person to person, depending on the type of cells affected and where in the body they are located. Some people may have very mild symptoms, while others may have very severe symptoms. Symptoms can vary even within the same family.

The table below shows some of the common symptoms seen in these diseases.

These symptoms can begin at birth or appear at any age in life. A doctor usually suspects this when symptoms appear simultaneously in several unrelated organ systems.

Why does this kind of disease occur?

The main reason for this is genetic defects .

Simply put, the mitochondria inside our cells get their instructions to make energy from our DNA. If there is a change or mutation in this DNA, the mitochondria don't get the instructions right. Then they can't make energy properly. This can damage the cells or cause them to die prematurely.

How does someone inherit this disease?

These are genetic diseases, meaning they can be passed down from parents to children. Sometimes, even if no one in the family has the disease, someone can develop the disease due to a random genetic mutation.

Can other diseases impair mitochondrial function?

Yes. It's called secondary mitochondrial dysfunction. That means you don't have a genetic mitochondrial disease, but another medical condition is causing your mitochondria to not work properly. For example:

• Alzheimer's disease
• Muscular dystrophy
• Type 1 diabetes
• Multiple sclerosis (MS)
• Some types of cancer

Mitochondria can be affected by diseases such as:

How to diagnose this disease?

Diagnosing this disease can be a bit challenging because the symptoms are so varied. It can't be diagnosed with just one test. Your doctor may run a series of tests.

• A thorough review of your and your family's medical history .
• Performing a complete physical examination .
• A test related to the nervous system .
• Blood and urine tests . Sometimes a spinal tap may also be done.
• DNA testing .
• Depending on the symptoms, tests such as an MRI scan, an EKG or Echocardiogram of the heart, eye exams, hearing tests, and EEG tests to monitor brain activity may be performed.
• Sometimes it may be necessary to take a small piece of skin or muscle (biopsy) and examine it under a microscope.

Therefore, it is very important to consult a doctor or hospital that specializes in these types of diseases for diagnosis.

What are the treatments?

Unfortunately, there is no cure for mitochondrial disease yet. However, there are various treatments available to help manage symptoms and prevent life-threatening complications .

• Medications that reduce symptoms: For example, anti-epileptic medications.
• Vitamins and supplements: Things like riboflavin, coenzyme Q10, and carnitine may be helpful for some people.
• Dietary changes and exercise: Your doctor will recommend these based on your condition.
• Physical therapy, occupational therapy, or speech therapy treatment.
• Wearing assistive devices such as hearing aids .

What works for one person may not work for another, so it's best to talk to your doctor and come up with a treatment plan that's right for you.

Can the disease be prevented from worsening?

Although there is no way to prevent this disease from developing, you can stay away from some things that aggravate the symptoms.

• Avoid exposure to extreme cold or extreme heat .
• Don't skip meals.
• Get a good night's sleep.
• Stay away from stress as much as possible.

Your doctor may advise you to conserve energy rather than expending all your body's energy all at once.

When should I see a doctor?

If you have symptoms of mitochondrial disease and are having difficulty performing your daily activities, be sure to see a doctor.

If you experience a seizure or severe difficulty breathing, go to a hospital's Emergency Department (ETU) immediately.

Learning that you or a loved one has this condition can be difficult. But remember, your family, friends, and medical team, including doctors, are there to help you live successfully with these symptoms.