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Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. [1] Adenosine triphosphate ( ATP ), 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.
Mitochondrial complex II deficiency, also called CII deficiency, is a rare mitochondrial disease caused by deficiency of mitochondrial complex II, also known as Succinate dehydrogenase (SDH). SDH plays a key role in metabolism; the catalytic end, made up of SDHA and SDHB oxidizes succinate to fumarate in the tricarboxylic acid (TCA) cycle.
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 ]
A mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial disease. MELAS syndrome Examples include MELAS syndrome and MERRF syndrome. These conditions can sometimes present together. [1] [2] KSS is sometimes included in this category, [3] but it is not included in this category in MeSH.
The mechanism of this condition indicates that the mitochondrial trifunction protein catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of ...
Apart from diseases caused by abnormalities in mitochondrial DNA, many diseases are suspected to be associated in part by mitochondrial dysfunctions, such as diabetes mellitus, [15] forms of cancer [16] and cardiovascular disease, lactic acidosis, [17] specific forms of myopathy, [18] osteoporosis, [19] Alzheimer's disease, [20] Parkinsons's ...
Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. [2] It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction (POLIP syndrome). [3] The disease presents in childhood, but often goes unnoticed for decades.
About 1 in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years. Up to 4,000 children per year in the US are born with a type of mitochondrial disease. [44] Because mitochondrial disorders contain many variations and subsets, some particular mitochondrial disorders are very rare.