What are Mitochondria? #lightupformito

September 13, 2020
9:00 am

It is 'Mitochondrial Disease Awareness Week' and that is why we are making an extra effort to raise awareness for these little-known diseases. But what are mitochondria and what do they have to do with ADOA?

mitochondria
The body needs mitochondria to function properly. Mitochondria are found in almost all body cells and are, as it were, the energy factories of our body. Mitochondria obtain energy from our diet and this energy is used to keep organs functioning. Everything the body does uses energy. To function properly, the mitochondria must be sufficiently present and function properly. The number of mitochondria differs per body cell and is determined by the energy requirement of that cell.
Due to an error in the DNA, the mitochondria do not function properly in an energy metabolism disease. Because mitochondria are present in virtually all body cells, failure will lead to disruption of all organs and tissues.

ADOA
In order to perceive, or see, the eye needs a lot of energy. The optic nerve therefore needs many mitochondria to work properly. In people with ADOA, there is a mutation in the OPA1 gene and this causes reduced production of the OPA1 protein. Mitochondria need this protein to function; if they are deficient, they break down or do not provide enough energy. Because the optic nerve needs many well-functioning mitochondria, the optic nerve is very sensitive to too little or poor OPA1 protein. This causes the optic nerve to gradually break down in people with ADOA. This results in visual impairment or even blindness.

ADOA-plus syndrome
In ADOA-plus syndrome, the deficiency of OPA1 protein also affects the mitochondria in other body cells. Unfortunately, people with ADOA-plus syndrome therefore also have more complaints, such as deafness, muscle weakness, reduced coordination of movements and reduced sensation.

All in all, mitochondria are very important and without them we cannot live. It is important that people know what mitochondrial diseases are so that more attention is paid to them, will you help us by sharing this story? #lightupformito