AEPMI (Asociación de Enfermos de Patologías Mitocondriales)
El ánimo es la más sana medicina
mitochondrial pathology
Mitochondrial diseases are a result of failure in the functioning of mitochondria, in turn, constituent parts of the body's cells, whose function is to generate the energy needed to sustain life and development and proper function of organs and systems. When you fail, less and less energy generated inside the cell, causing injury or cell death. If this process is repeated throughout the body, whole systems begin to fail and the life of the person who suffers is at serious risk. Diseases of the mitochondria appear to cause the most damage to brain cells, heart, liver, muscle, kidney, and endocrine and respiratory systems.
Organs affected by mitochondrial pathologies
| ORGAN | INVOLVEMENT |
|---|---|
| Brain | Delayed brain development, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes. |
| Nerves | Weakness, nueropático pain, absent reflexes, gastrointestinal problems (gastroesofágeo reflux, delayed gastric emptying, constipation, pseudo-obstruction), fainting, absent or excessive sweating problems related to temperature regulation. |
| Muscle | Weakness, hypotonia, cramping, muscle pain. |
| Kidneys | Proximal renal tubular wear resulting in loss of protein, magnesium, phosphorus, calcium and other electrolytes. |
| Heart | defects in pipes cardiac (heart blocks), cardiomyopathy. |
| Liver | Liver Hypoglycemia (low blood sugar in the blood), liver failure.. |
| Eye | Vision loss and blindness. |
| Ears | Hearing loss and deafness. |
| Pancreas | Diabetes and pancreatic exocrine pancreatítica failure (inability to generate digestive enzymes). |
| Systemic | Failure to gain weight, short stature, fatigue, respiratory problems including intermittent suffocation. |
A mitochondrial disease can be a multi-system disorder that affects more than one type of cell, tissue or organ. The exact symptoms are not the same for everyone, because a person with a mitochondrial disease may have a unique blend of healthy and defective mitochondria with a unique distribution in the body.
Hereditary diseases are not contagious and caused by mutations, or changes in the genes. These are responsible for building our bodies and are passed from parents to children, along with any mutation or defect they have. Often affect family members differently.For mitochondria, two types of essential genes:
- nADN. Located inside the nucleus, the part of our cells that contains most of our genetic material or DNA.
- mtADNEl. Lies exclusively within the DNA contained within mitochondria.
Mutations in either nuclear DNA (nADN) or mitochondrial DNA (mtDNA) can cause mitochondrial diseases.
NADN Unlike the mtDNA passes only from mother to child. This is because at conception, when sperm fuses with the egg, sperm mitochondria and mtDNA are destroyed. Therefore, mitochondrial diseases caused by mtDNA are unique because they are inherited in a maternal pattern (see illustration).
A single cell can contain both normal mitochondria and mutant mitochondria and the balance between the two determines the health of the cell. This helps explain why the symptoms of mitochondrial diseases can vary so much from person to person, even within the same family.
