MITOCHONDRIAL Disease
Failure of the mitochondria is a problem brought on by DNA abnormalities that alter how one's genes are expressed, resulting in mitochondrial disease. What do mitochondria do, and how does it affect a person's health when they fail? Mitochondria are specialized "compartments" present in practically all human body cells (all except red blood cells). Although mitochondria are frequently referred to as "the powerhouse" of cells because they aid in the process of ATP synthesis within cells, they also play a variety of other functions.
The United Mitochondrial Disease Foundation states that mitochondria produce more than 90% of the energy required to maintain the human body (as well as the bodies of the majority of other animals), but what you might be surprised to learn is that about 75% of their work is focused on other critical cellular processes besides energy production. We wouldn't be able to mature and grow from the time we were infants, nor would we have the energy to do adult biological activities like digestion, maintaining cognitive functions, and keeping circulatory and cardiac rhythms.
Mitochondrial disease symptoms
A cell's mitochondrion serves as an energy production facility. Imported sugars and lipids are turned into ATP after being broken down and transformed. For this extremely complex process to succeed, several specific protein complexes are needed at various stages. Genetic mutations that result in deficits in one or more of the protein complexes necessary to produce ATP are the root cause of mitochondrial disorders. In addition to being deprived of ATP when a cell has too many damaged mitochondria, this condition can cause the accumulation of leftover oxygen and fuel molecules. Byproducts that could be dangerous, like lactic acid, can build up. Lactic acidosis can develop, with symptoms ranging from minor to severe. They consist of cramps, pains, and muscle tiredness. In the meantime, reactive oxygen species, such as free radicals that lead to oxidative stress, can be created when unused oxygen is in the cells. Muscle contraction and correct nerve cell firing are primarily powered by ATP, which is produced in mitochondria. Subtle indications and symptoms including weariness, psoriasis, brain fog, and mysterious joint discomfort can also result from the accumulation of free radicals in these cells as a result of mitochondrial disorders and reduced energy supply.
Energy generation inside the cell slows down when the mitochondrion fails, which is damaging and may potentially cause the cell to die. Which cells in the body have dysfunctional mitochondria determines which symptoms are present. The cells of the brain, heart, liver, skeletal muscles, kidney, and the endocrine and respiratory systems appear to be most severely harmed by mitochondrial diseases.
These signs include:
Low exercise tolerance and low energy levels are accompanied by weariness when exerting oneself.
Congestive heart failure is caused by low cardiac output.
Developmental delays below the growth curve's average
Digestive system issues such as constipation, irritable bowel syndrome, and leaky gut
Muscle aches, pains, and cramps are some signs of lactic acidosis.
Inability to tolerate drugs or supplements due to liver illness and congestion, which both include symptoms such as brain fog
loss of coordination, and motor control
Neurological conditions
The potential for infection
Swallowing problems
Thyroid dysfunction
Seizures
One mitochondrion can contain up to 3,000 different genes. The rate-regulating enzymes for the biosynthesis of pyrimidine (dihydroorotate dehydrogenase) and the synthesis of heme are found in mitochondria, which also provide energy (D-aminolaevulinic acid synthase). Ammonia, which is produced during the urea cycle, is detoxified by mitochondria in the liver in a specific way. Additionally, mitochondria are necessary for the metabolism of cholesterol, the synthesis of testosterone and estrogen, the synthesis of neurotransmitters, the creation of free radicals, and their detoxification. In addition to carrying out all of these tasks, they also metabolize or oxidize the fat, carbs, and protein we eat.
Tests Performed for Diagnosis:
The three types of diagnostic standards are as follows:
Nuclear DNA and mitochondrial DNA (mtDNA) genetic tests
Blood, urine, and cerebral spinal fluid metabolic markers
Liver respirometry, CoQ levels, and muscle pathology are measured during muscle testing.
If two or more tests from two different categories produce abnormal results, the diagnosis is regarded as positive.
RESOURCES:
https://www.nature.com/nrneurol/
2022. NP. Malika Katrouche. All Rights Reserved.