MITOCHONDRIAL DISEASES
Mitochondrial diseases are a group of chronic, genetic, often inherited disorders caused by dysfunctional mitochondria, the organelles present in every cell of the body that generate energy for cells.
- Several thousand mitochondria are present in nearly every cell of the body except the red blood cell.
- They are responsible for creating more than 90% of the energy needed by the body to sustain life and support organ function.
- They are known as the powerhouse of cells. They process oxygen and convert substances from the food we eat into energy.
- Mitochondrial diseases can affect any part of the body, including the cells of the nerves, muscles, kidneys, heart, eye, brain, livers and ears.
- Mitochondrial diseases lead to less energy production in the cells. When this happens, cell injury may occur leading to cell death.
- When multiple organ cells die, there is organ failure.
- About 1 in 5,000 individual has a genetic mitochondrial disease.
- Mitochondrial diseases are commonly seen in infants and children; they can occur at any age.
- Types of mitochondrial diseases include Alpers disease, Barth syndrome, Hereditary paraganglioma, Pearson syndrome, Wolfram syndrome, Dominant optic atrophy, Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), Neuropathy, ataxia, and retinitis pigmentosa (NARP), Myoclonic epilepsy with ragged red fibers (MERRF).
CAUSES
Mitochondrial diseases may be caused by mutations, inherited or acquired, in the mitochondrial DNA (mtDNA). It can also be as a result of mutations in the nuclear gene that codes for mitochondrial components.
An uncertain percentage acquire the disorder due to other factors such as certain conditions like diabetes, Parkinson’s disease, cancer, chronic fatigue syndrome, Alzheimer’s disease, aging, schizophrenia, bipolar disorder, anxiety disorder, and cardiovascular diseases.
SYMPTOMS
Presentation of symptoms varies among different people. The common symptoms are:
- Muscle weakness
- Poor growth
- Liver diseases
- Gastrointestinal problems, unexplained vomiting, cramping, reflux
- Visual problems
- Hearing problems
- Learning disabilities
- Kidney disease
- Heart disease
- Dementia
- Neurological problems, stroke, seizure
- Lactic acidosis (a buildup of lactate)
- Respiratory problems
- Autism
DIAGNOSIS AND TREATMENT
The condition is hard to diagnose because it affects so many different organs and tissues in the body and because patients experience different symptoms.
No single laboratory or diagnostic test exists that can confirm the diagnosis of michotrodial diseases.
Diagnosis can be made by a doctor who specializes in mitochondrial diseases.
Diagnosis can be made by genetic DNA testing and/or skin and muscle biopsy.
Other diagnostic procedure may include biochemical testing which looks for changes in the body chemical that are responsible for energy making.
TREATMENT
No cure exists for mitochondrial diseases, but treatment options may help relieve symptoms and slow down the progression of the condition. Treatment options may include:
- Vitamin and supplements therapy
- Conserving energy. Avoid doing much in a short period of time.
- Eating healthy and maintaining hydration
- Physical therapy
AVOID SITUATIONS THAT MAY WORSEN CONDITION SUCH AS
- Starvation
- Smoking
- Alcohol
- Exposure to cold and/or heat
- Lack of sleep
Treatment options are still very limited, but researches are still ongoing.