Mitochondrial myopathy an overview sciencedirect topics. Mitochondrial myopathies and anaesthesia european journal. The intraarterial injection of 24 dinitrophenol, an uncoupler of oxidative phosphorylation, resulted in the production of ragged red fibers. Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs.
Examining the muscle under an electron microscopy can demonstrate mitochondrial proliferation and abnormal mitochondrial morphology in mitochondrial myopathies. On biopsy, the muscle tissue of patients with these diseases usually demonstrate ragged red muscle fibers. Comment mitochondrial myopathies can present as rhabdomyolysis or exerciseinduced muscle pain, particularly in adolescents and adults. Diagnosis and treatment of mitochondrial myopathies article pdf available in neurotherapeutics 1520 november 2018 with 158 reads how we measure reads. Mitochondrial myopathies also can cause weakness and wasting in other muscles of the face and neck, which can lead to difficulty with swallowing and, more rarely, slurred speech. People with mitochondrial myopathies also may experience muscle weakness in their arms and legs. Mitochondrial myopathies are a group of complex neuromuscular disorders and can occur as a result of other diseases such as cancer, diabetes, and obesity.
Antimycin a and oligomycin injection which inhibit mitochondrial respiration only caused swelling and disruption of the. A group of neuromuscular diseases caused by damage to the mitochondria, energyproducing structures in cells that serve as power plants. Using the same sequence data and a mitochondrial genbank file, the positions are annotated according to the mitochondrial genetic code and display tryptophan right image. Diagnosis and treatment of mitochondrial myopathies. The congenital myopathies are a group of genetic muscle disorders that. In the 1980s and 1990s the mitochondrial genome was mapped, and many, but not all, of the disease acronyms could be linked to specific point mutations or common deletions in the mtdna. At 48month followup, the patient was clinically pain free and well balanced. Mitochondria are found in every cell of the human body except red blood cells, and convert the energy of food molecules into the atp that powers most cell functions. As chronic progressive external ophthalmoplegia with or without mild proximal muscle weakness or kearnssayre syndrome as an isolated myopathy with or without exercise intolerance andor myalgia. Mitochondrial diseases with typical combinations of clinical symptoms. Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondriasmall, energyproducing structures that serve as the cells power plants.
Mitochondrial myopathy is a collective term for diseases related to defective mitochondria in cells. Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondrial myopathies definition mitochondrial myopathies are a group of neuromuscular disorders that result from defects in the function of the mitochondrion, a small organelle located inside many cells that are responsible for fulfilling energy requirements of the tissue. Diagnosis and treatment of mitochondrial myopathies ncbi.
Effective therapies and diagnostics for mitochondrial disease. Mitochondrial cytopathy, mitochondrial myopathy orphanet. Pdf abstract mitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. A patient that presents with muscle weakness can have any of these. Mitochondrial myopathy is a name given to a group of mitochondrial diseases that particularly affect muscle, but which may also affect every other part of the body including the brain and the eyes. As you will read in this booklet, dozens of varieties of mitochondrial diseases have been identified, with a. Mitochondrial diseases present with a wide range of clinical expression.
Mar 27, 2019 mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondriasmall, energyproducing structures that serve as the cells power plants. On the pathogenesis of mitochondrial myopathies springerlink. First comprehensive analysis of the mitochondrial myopathies on the molecular level in south africa. The patient was a 16yearold chinese adolescent boy undergoing a posterior correction at thoracic 2lumbar 3 t2l3 levels using the mosssi spinal system. Mitochondria are the cellular structures in which energy in the form of heat and work is produced from the oxidation of fuels such as glucose and fat. When skeletal muscle is affected, either alone or with central nervous system disease, the term mitochondrial myopathy is used. Add mitochondrial genbank file or appropriate reference sequence files 3.
Mitochondrial myopathy definition of mitochondrial myopathy. Organ systems relying most on aerobic metabolism are preferentially affected and involvement of the nervous system is common. Request pdf mitochondrial myopathies mitochondria are essential cellular organelles that convert carbohydrates, lipids, and proteins into usable energy in the form of adenosine. For example, although these are very rare disorders, many of their symptoms are common in the general popula. Mitochondrial myopathies can present as rhabdomyolysis or exerciseinduced muscle pain, particularly in adolescents and adults. Mitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. Mitochondrial ciii activity is decreased in muscle of patients with statininduced myopathies to assess the in vivo relevance of our in vitro observations, we analyzed muscle biopsies from 37 patients with statininduced myopathies for study design see supplemental experimental procedures and for detailed patient information see table s1. Mitochondrial dna sequence analysis using mutation. The authors conclude that mutations in mitochondrial trnas represent hot spots for mitochondrial myopathies in adults. Part i explores basic techniques to researching mitochondrial myopathies e. The ultrastructure of these fibers showed intramitochondrial paracrystalline inclusions, laminar and fingerprint bodies. Mitochondrial dna sequence analysis using mutation surveyor.
Mitochondrial myopathies are a group of mitochondrial diseases caused by mutations in genes that predominantly affect skeletal muscle leading to muscular and neurological problems that can include muscle weakness, exercise intolerance, seizures, learning disabilities, impaired vision, heart defects, diabetes and stunted growth. The diagnosis of mitochondrial myopathy is reliant on the combination of numerous techniques. Mitochondrial myopathies mm download our mitochondrial myopathies mm fact sheet. The official parents sourcebook on mitochondrial myopathies. Statininduced myopathy is associated with mitochondrial. Create healthcare diagrams like this example called mitochondrial myopathies in minutes with smartdraw. Common methods of evaluating and classifying patients and their diseases included complementary. Full text get a printable copy pdf file of the complete article 755k, or click on a page image below to browse page by page. Mitochondrial myopathies guide for physicians available.
The mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups. There are several conditions that can cause the number of mitochondria to be reduced and there is wide variety of mitochondrial genetic defects. Turnbull muscle contraction is dependent on the highenergy molecule adenosine triphosphate atp, and deficiency of atp synthesis leads to premature muscle fatigue and weakness. The first has onset in infancy, does not progress past adolescence, and is not incapacitating.
Nerve and muscle cells require a great deal of energy and are particularly impaired by mitochondrial dysfunction. We emphasize the need to look for a mitochondrial disorder in some nonspecific myopathies starting in adult life. The following groups illustrate the different ways mitochondrial myopathies can present clinically. These raggedred fibers contain mild accumulations of glycogen and neutral lipids, and may show an increased reactivity for succinate dehydrogenase. In vitro studies of mitochondrial metabolism have identified a variety of functional defects of the respiratory chain, predominantly affecting complex i or. Several proapoptotic proteins are located in the mitochondrial intermembrane space. No controlled clinical trials have been conducted in patients with mitochondrial myopathy to study the effects of anesthetic agents. Some of the more common mitochondrial myopathies include the kearns. Several strategies to detect mitochondrial alterations have been investigated, and development of the application of a realtime pcr strategy is currently underway. Kinder ross, in an editorial in pediatric anesthesia, pointed out that patients with myopathies and md usually do well regardless of the specific anesthetic approach that is chosen,8 a conclusion supported by more recent case reports. Unique contributions from this research programme are summarised below. Mitochondrial disease and anesthesia stanford medicine.
The mitochondria are the primary source of the atp used by exercising muscle. Mitochondrial myopathies information page national. Mitochondrial myopathy presenting as rhabdomyolysis the. A number of biochemical defects in mitochondria have been discovered. This article is from annals of medicine, volume 45. The mitochondrial myopathies consist of a heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria leading to involvement of the nervous system and muscles as well as other organ systems. Nord publishes physician guide to mitochondrial myopathies umdf.
Defects of the mitochondrial respiratory chain and oxidative phosphorylation system. Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. Nord publishes physician guide to mitochondrial myopathies. Rosing hs, hopkins lc, wallace dc, epstein cm, weidenheim k. Mitochondrial myopathies definition of mitochondrial. Abstractmitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of. Add 1directional or 2directional mitochondrial dna sample files 2. A previously unreported scoliosis in mitochondrial myopathies is described.
Sayre syndrom, progressive external ophthalmoplegia, pearson. Does mitochondrial myopathy mm increase an individuals. Mitochondrial myopathies mm muscular dystrophy association. This publication provides an overview of the mitochondrial myopathies, including common symptoms, diagnosis, and available therapies. The mitochondrial myopathies give rise to a diverse group of clinical syndromes, variably involving skeletal muscle and the central nervous system, with onset in childhood or adult life. The muscles and the brain require a lot of energy, and are therefore often the most severely affected by mitochondrial disease.
Histochemical staining for different etc complexes can be used to estimate the severity and heterogeneity of etc complex deficiencies in the muscle tissue 31. Pdf diagnosis and treatment of mitochondrial myopathies. Also discussed is nindsfunded research to increase scientific understanding of the mitochondrial myopathies. We have found information to be a vital tool in managing michaels and jennifers diseases and achieving the best possible outcome. Diagnosis and treatment of mitochondrial myopathies springerlink. From this booklet youll also learn a few encouraging things. There are too many variants of mitochondrial myopathies. Catalog home health topics mitochondrial myopathies mitochondrial myopathies 1 product local navigation. Mitochondrial myopathies online medical video lecturio. Smartdraw includes s of professional healthcare and anatomy chart templates that you can modify and make your own. Facts about mitochondrial myopathies muscular dystrophy. In patients with mitochondrial myopathy, mitochondria are not able to undergo normal oxygen consumption and energy production due to mutations in mitochondrial dna mtdna or nuclear dna that affect the mitochondrial machinery of cells.
Mar 16, 2020 mitochondrial myopathies also can cause weakness and wasting in other muscles of the face and neck, which can lead to difficulty with swallowing and, more rarely, slurred speech. Mitochondrial myopathies are progressive muscle conditions caused primarily by the impairment of oxidative. Mitochondrial myopathies british medical bulletin oxford. These raggedred fibers contain mild accumulations of glycogen and neutral lipids, and may show an increased reactivity for succinate dehydrogenase and a decreased reactivity for cytochrome c oxidase. Like all mitochondrial diseases, mitochondrial myopathies can also be. Mitochondrial myopathies have many dif ferent faces. The national organization for rare disorders nord, a nonprofit organization representing all patients and families affected by rare diseases, published the physician guide to mitochondrial myopathies, available free online to medical professionals worldwide. Just as some diseases are named for the part of the body they affect like heart disease, mitochondrial diseases are so named because they affect a specific part of the cells in the body. Other articles where mitochondrial myopathy is discussed. Apoptosis in mitochondrial myopathies is linked to. Oct 27, 2015 mitochondrial myopathy is a collective term for diseases related to defective mitochondria in cells. Like all mitochondrial diseases, mitochondrial myopathies can also be classified genetically into two major groups, those due to mutations in mtdna and those due to mutations in ndna. The best examples of this type of exercise limitation are mitochondrial myopathies mm. Mitochondrial myopathy fact sheet national institute of.
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