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. With ATP production deficient in mitochondria, there is an over-reliance on anaerobic glycolysis which leads to lactic acidosis either at rest or exercise-induced.[2]
Primary mitochondrial myopathies are inherited, while secondary mitochondrial myopathies may be inherited (e.g. Duchenne's muscular dystrophy)[3] or environmental (e.g. alcoholic myopathy[4][5]). When it is an inherited primary disease, it is one of the metabolic myopathies.[6][4]
On biopsy, the muscle tissue of patients with these diseases usually demonstrate "ragged red" muscle fibers on Gomori trichrome staining. The ragged-red appearance is due to a buildup of abnormal mitochondria underneath the plasma membrane.[7] These ragged-red fibres may contain normal or abnormally increased accumulations of glycogen and neutral lipids, with histochemical staining showing abnormal respiratory chain involvement, such as decreased succinate dehydrogenase or cytochrome c oxidase.[8] Inheritance was believed to be maternal (non-Mendelian extranuclear). It is now known that certain nuclear DNA deletions can also cause mitochondrial myopathy such as the OPA1 gene deletion.[6]
^"Mitochondrial Myopathy Information Page | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Retrieved 2017-02-28.
^Cite error: The named reference :5 was invoked but never defined (see the help page).
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^ abSimon L, Jolley SE, Molina PE (2017). "Alcoholic Myopathy: Pathophysiologic Mechanisms and Clinical Implications". Alcohol Research. 38 (2): 207–217. PMC 5513686. PMID 28988574.
^Song BJ, Akbar M, Abdelmegeed MA, Byun K, Lee B, Yoon SK, Hardwick JP (2014-01-01). "Mitochondrial dysfunction and tissue injury by alcohol, high fat, nonalcoholic substances and pathological conditions through post-translational protein modifications". Redox Biology. 3: 109–123. doi:10.1016/j.redox.2014.10.004. PMC 4297931. PMID 25465468. S2CID 17113550.
^ abUrtizberea JA, Severa G, Malfatti E (April 2023). "Metabolic Myopathies in the Era of Next-Generation Sequencing". Genes. 14 (5): 954. doi:10.3390/genes14050954. PMC 10217901. PMID 37239314.
Mitochondrialmyopathies are types of myopathies associated with mitochondrial disease. Adenosine triphosphate (ATP), the chemical used to provide energy...
a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people. Mitochondrialmyopathy Pia S, Lui F (2020)...
known as mitochondrialmyopathies. Mitochondrial disease can manifest in many different ways whether in children or adults. Examples of mitochondrial diseases...
to affecting only muscle (pure myopathy), or may be part of a systemic disease as is typical in mitochondrialmyopathies. Common symptoms include muscle...
Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. They are generally genetic defects...
inadequate energy for muscles or accumulation of waste products. Mitochondrialmyopathies are diseases caused by mutations related to mitochondria, and thus...
synthesis and maturation. A deficiency of ISCU is associated with a mitochondrialmyopathy with lifelong exercise intolerance where only minor exertion causes...
and therefore most mitochondrial DNA mutations lead to functional problems, which may be manifested as muscle disorders (myopathies). Because they provide...
cell metabolism. Mitochondrial disorders often present as neurological disorders, including autism. They can also manifest as myopathy, diabetes, multiple...
Willems JL, Daniels O, Stadhouders AM (1975) Congenital cataract and mitochondrialmyopathy of skeletal and heart muscle associated with lactic acidosis after...
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fused to myotubes that carry mitochondrial DNA (mtDNA) mutations to reduce these mutation loads in mitochondrialmyopathy cases. Mesoangioblasts were found...
(MOXIe)". Retrieved 6 October 2014. "RTA 408 Capsules in Patients With MitochondrialMyopathy (MOTOR)". Retrieved 6 October 2014. "Reata Announces the Initiation...
peripheral neuropathy, ragged red fibres in muscle cells (suggesting mitochondrialmyopathy), sudden cardiac death, and neurological involvement, although it...
I have ever known". Stepanek had a rare disorder, dysautonomic mitochondrialmyopathy. His three older siblings died from the same illness. The condition...
understood. The human mitochondrial tRNA mutations are associated with a variety of diseases including mitochondrialmyopathies. However, it is understood...
aid in the diagnosis of muscle diseases (such as polymyositis, mitochondrialmyopathy, etc.). Peripheral nerve is assessed to help work up patients with...
(mitochondrialmyopathies and disorders of citric acid cycle and electron transport chain). (See metabolic myopathies for more details.) Mitochondrial...
symptoms not only overlap with another type of metabolic myopathy, that of mitochondrialmyopathy, but MADD also impairs the FAD-dependent respiratory chain...
excretion of myoglobin in the urine. It has been associated with mitochondrialmyopathy. A G5920A mutation, and a heteroplasmic G6708A nonsense mutation...
common manifestation of mitochondrialmyopathy, occurring in an estimated two-thirds of all cases of mitochondrialmyopathy. Patients typically present...
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