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Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells .
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic , hepatopathic , or encephalomyopathic . [ 1 ]
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. [1] Adenosine triphosphate (), the chemical used to provide energy for the cell, cannot be produced sufficiently by oxidative phosphorylation when the mitochondrion is either damaged or missing necessary enzymes or transport proteins.
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is one of the family of mitochondrial diseases, which also include MIDD (maternally inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary optic neuropathy.
“Mitochondria play a vital role in cellular energy production, metabolism, and immune response. By understanding how mitochondrial dysfunction contributes to Crohn’s disease, researchers can ...
Heteroplasmy is the presence of more than one type of organellar genome (mitochondrial DNA or plastid DNA) within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases.
Anti-mitochondrial antibodies (AMA) are autoantibodies, consisting of immunoglobulins formed against mitochondria, [1] primarily the mitochondria in cells of the liver.. The presence of AMA in the blood or serum of a person may be indicative of the presence of, or the potential to develop, the autoimmune disease primary biliary cholangitis (PBC; previously known as primary biliary cirrhosis).
CPEO is the most common manifestation of mitochondrial myopathy, occurring in an estimated two-thirds of all cases of mitochondrial myopathy. Patients typically present with ptosis (drooping eyelids). Other diseases like Graves' disease, myasthenia gravis and glioma that may cause an external ophthalmoplegia must be ruled out. [citation needed]