Mitochondrial Myopathy

Mitochondrial myopathies are a group of diseases and not just one particular disease. However, all these diseases affect only one thing in our body. This one thing is the mitochondria. Those who have studied human genetics or similar sciences, know that mitochondria are present in all our nerve cells and deal with the functions our muscles. These mitochondria are what provide energy to our cells which in turn help in movement of muscles et al. If these mitochondrial problems affect only the muscles, the disease is known as a mitochondrial myopathy, where myo stands for muscle and pathos stands for disease. On the other hand, if they affect both, the muscle and the brain, it is called a mitochondrial encephalomyopathy, where encephalo stands for brain.

Group of Mitochondrial Myopathy Diseases

• Kearns-Sayre syndrome (KSS)
• Mitochondrial DNA Depletion Syndrome (MDS)
• Mitochondrial Encephalomyopathy; Lactic Acidosis and Stroke Like Episodes (MELAS)
• Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
• Myoclonus Epilepsy with Ragged Red Fibers (MERRF)
• Progressive External Ophthalmoplegia (PEO)
• Neuropathy, Ataxia and Retinitis Pigmentosa (NARP)
• Leigh Syndrome
• Pearson Syndrome

What Are The Causes?

All of know that our body is made with the help of genes. The particular type of genes that affect mitochondrial diseases are those that make proteins, which in turn, work inside the mitochondria. Mitochondria refers to a lot of energy factories, its singular is known as mitochondrion. Inside each of these mitochondrions, fuel molecules obtained from food are used to manufacture or produce ATP, the energy molecule. This process of manufacturing needs oxygen and there aren't many proper ways of producing the ATP outside the mitochondrion.

Now what happens is this. Proteins get the fuel molecules, wiz. the fats and sugar inside the mitochondrion. Then, they extract energy from the fuel molecules. This extracted energy is in the form of electrons which as we know are charged particles. These charged particles are then used to make ATP. The proteins we talk about here, exist in five groups, called complexes I, II, III, IV & V. Complexes I-IV are called electron transport chain as they actually manage the electrons through the whole process. Complex V is called the ATP synthase as it actually lets out the ATP.

We have seen the group of mitochondrial diseases. These diseases are differentiated in a way due to a particular deficiency in a particular complex. The names also at times, can be relating to these complex deficiencies. For example, Complex I deficiency. A defected mitochondria does not only not produce the ATP but also becomes home to a lot of unused oxygen and fuel molecules. This can prove to be dangerous in some circumstances.

What Symptoms Should You Look Out For?

Though fatigue, weakness and muscle wasting are the most common symptoms, it has been observed that the prominence is more in muscles that control eye and eyelid movements. Progressive External Ophthalmoplegia (PEO) stands for the slow paralysis of the eye movements, while the term that is used for the upper eyelid drooping is ptosis. One thing we need to realize here is the severity of these symptoms. They vary even in people affected in the same family. Some people might not be able to swallow food (change in diet recommended) while some may find it difficult to move around and might need the help of a wheelchair.

Now let us talk about mitochondrial encephalomyopathy. These symptoms are similar to the ones we read above but have some additions. For example, in this case we also have the additional symptoms of headaches and migraines. Another common symptom of the mitochondrial encephalomyopathy is hearing impairment. Few of the other symptoms are loss of vision due to shrinking of the optic nerve. This is called optic atrophy. There are some cells that line the eye on its back. Degeneration of these cells or retinopathy as it's called, can also cause loss of vision.

Are There Any Treatments?

It is natural to wonder if there is any treatment! A lot of institutes around the world are researching for the cure of mitochondrial myopathy and encephalomyopathy. Though no cure as such has yet been discovered, we can still look for hope in a way. Mitochondrial myopathy prognosis is very difficult, but the symptoms such as ptosis and difficulty in swallowing of food even can be cured, as treatments for those are already available. You can shift to an easy-to-swallow food diet, and for ptosis, you can use "ptosis crutch" spectacles.

Now that you know everything about the mitochondrial myopathy diseases, you can see that nothing is certain. Since the disease affects the genes, they are hereditary. We have seen that the symptoms vary from person to person. Now, we have to see how we can best deal with these situations and not bring routines to an end. We also have to remember that these diseases are not contagious and do not develop due to a particular lifestyle or habit, but is just a result of a genetic disorder. People who suffer from these diseases have equal rights to live in the global society.