Infobox Disease Name Myopathy Image Caption DiseasesDB 8723 ICD10 ICD10 G 71 g 70 ICD10 G 72 g 70 , ICD10 ... emerg eMedicineTopic 328 MeshID D009135 In medicine , a myopathy is a muscular disease ref ... webster.com dictionary Myopathy title Myopathy Definition from the Merriam Webster Online Dictionary ..., resulting in muscular weakness . Myopathy simply means muscle disease myo Greek language Greek ... e.g., the brain etc. . Muscle cramp s, stiffness , and spasm can also be associated with myopathy ... and musculoskeletal. Classes There are many types of myopathy. ICD ICD 10 codes are provided here ... related to respiratory weakness. G71.1 Myotonia Neuromyotonia G71.2 The congenital myopathy congenital ... nemaline myopathy characterized by presence of nemaline rods in the muscle , G71.2 multi minicore myopathy characterized by multiple small cores or areas of disruption in the muscle fibers , G71.2 Centronuclear myopathy including myotubular myopathy centronuclear myopathy or Centronuclear myopathy including myotubular myopathy myotubular myopathy in which the cell nucleus nuclei are abnormally found in the center of the muscle fibers , a rare muscle wasting disorder G71.3 Mitochondrial myopathies ... G72.3 Familial periodic paralysis G72.4 inflammatory myopathy Inflammatory myopathies , which are caused ... in the muscle G73.6 Metabolic myopathy Metabolic myopathies , which result from defects in biochemical ... may affect muscle G73.6 E75 Lipid storage disorder Acquired G72.0 G72.2 External substance induced myopathy G72.0 Drug induced myopathy Glucocorticoid myopathy is caused by this class of steroids catabolism ... myopathy journal J. Steroid Biochem. Mol. Biol. volume 50 issue 1 2 pages 1 4 year 1994 month July pmid 8049126 doi url ref G72.1 Alcoholic myopathy G72.2 Myopathy due to other toxic agents M33.0 ... months and there is no evidence of myopathy. Simvastatin 80 mg should not be started in new patients ... for myopathy. Treatments range from treatment of the symptoms to very specific cause targeting ... more details
Infobox Disease Name Congenital myopathy Image Caption DiseasesDB ICD10 ICD10 G 71 2 g 70 ICD9 ICD9 359.0 ICDO OMIM MedlinePlus eMedicineSubj article eMedicineTopic 1175852 MeshID D020914 Congenital myopathy is a term for any muscle disorder present at birth. ref The first version of this article incorporates material from the National Institute of Neurological Disorders and Stroke document Congenital Myopathy Information Page at http www.ninds.nih.gov disorders myopathy congenital myopathy congenital.htm As a work of an agency of the U.S. Government without any other copyright notice it should be available as a public domain resource . ref By this definition the congenital myopathies could include hundreds of distinct neuromuscular syndromes and disorders. Congenital myopathies do not show evidence for either a progressive dystrophy dystrophic process i.e., muscle death or inflammation , but instead characteristic microscopic changes are seen in association with reduced contractile ability of the muscles. In general, congenital myopathies cause loss of muscle tone and muscle weakness in infancy and delayed motor milestones, such as walking, later in childhood. Types The conditions included under the term congenital myopathy can vary. One source includes nemaline myopathy , myotubular myopathy , central core myopathy , congenital fiber type disproportion , and multicore myopathy . ref http www.merck.com mmpe sec19 ch295 ch295c.html ref The term can also be used more broadly, to describe conditions present from birth. External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part cftd GeneReviews NCBI NIH UW entry on Congenital Fiber Type Disproportion References reflist Diseases of myoneural junction and muscle DEFAULTSORT Congenital Myopathy Category Genetic disorders by system Category Myoneural junction and neuromuscular diseases Genetic disorder stub zh ... more details
Nemaline myopathy Nemaline myopathy also called rod myopathy or nemaline rod myopathy is a congenital ... severity. Myopathy means muscle disease, and a biopsy of muscle from a person with nemaline myopathy shows abnormal thread like ref DorlandsDict nine 000954933 nemaline myopathy ref rods, called nemaline bodies, in the muscle cells. People with nemaline myopathy or NM usually experience delayed ... to survive and lead active lives. Nemaline myopathy is one of forty neuromuscular diseases covered by the Muscular Dystrophy Association . Genetic qualities Nemaline myopathy is a clinically and genetically ... myopathy The physical capabilities of a given person with NM do not correlate well either with genotype ... with muscle pathology in nemaline myopathy Ryan et al. 60 4 665 Neurology cite web url http www.neurology.org ... in nemaline myopathy Ryan et al. 60 4 665 Neurology format work accessdate 2009 02 18 ref Deleted ... be found in the muscle of an individual with nemaline myopathy. While these rods are diagnostic of nemaline myopathy, they are most likely a byproduct, rather than a cause, of the disorder. History and early identification Rod myopathy was first identified by Douglas Reye , an Australian physician ... of the biopsy. Forty years later, Reye s rod myopathy patient was confirmed to have nemaline myopathy. Another group of Australian researchers has since published an article recognizing Reye ... gone awry identification of the first case of nemaline myopathy by Dr R.D.K. Reye journal Neuromuscul ... 8966 99 00123 6 url http linkinghub.elsevier.com retrieve pii S0960896699001236 ref Nemaline myopathy .... Physical characteristics and effects Physical expression of nemaline myopathy varies greatly, but weakness .... Communication and eating Bulbar throat muscle weakness is a main feature of nemaline myopathy. Most ... community In 1999, the http www.davidmcd.btinternet.co.uk first non medical webpage on nemaline myopathy was launched, and in October 2004, the first Nemaline Myopathy Convention was held in Toronto ... more details
Infobox Disease Name Bethlem myopathy Image Caption DiseasesDB 32019 ICD10 G71.2 ICD9 ICDO OMIM 158810 MedlinePlus eMedicineSubj eMedicineTopic MeshID Bethlem myopathy is an autosomal Dominance relationship Dominant allele dominant ref name bm cite journal author Jobsis GJ, Boers JM, Barth PG, de Visser M title Bethlem myopathy a slowly progressive congenital muscular dystrophy with contractures journal Brain volume 122 issue 4 pages 649 655 year 1999 pmid 10219778 doi 10.1093 brain 122.4.649 ref myopathy , classified as a congenital form of muscular dystrophy , ref name bm that is caused by a variation in one of the three genes coding for type VI collagen . ref name bm These include COL6A1 , COL6A2 , and COL6A3 . ref name pmid16141002 cite journal author Lampe AK, Bushby KM title Collagen VI related muscle disorders journal J. Med. Genet. volume 42 issue 9 pages 673 85 year 2005 month September pmid 16141002 pmc 1736127 doi 10.1136 jmg.2002.002311 url http jmg.bmj.com cgi pmidlookup?view long&pmid 16141002 ref Presentation The onset of this disease begins in childhood, but its progression is extremely slow, with symptoms of weakness and walking difficulties usually not presenting until past age 50. Early symptoms include Gower s sign climbing up the thighs with the hands when rising from the floor and tiptoe walking caused by the beginning of contracture s. Bethlem myopathy is an extremely rare disorder, with fewer than 100 families worldwide known to have it. It is sometimes known as Leonard syndrome after one of the presenting families. Contractures of the fingers are a typical symptom of Bethlem myopathy but not of the related Ullrich s myopathy which does include contractures of arms and legs, as does Bethlem myopathy . Blood serum Serum creatine kinase is elevated in Bethlem myopathy, as there is ongoing muscle cell death. Patients with Bethlem myopathy may expect ... grows to adulthood. ref name bm Image Autosomal dominant en.svg thumb right Bethlem myopathy has ... more details
Infobox Disease Name Centronuclear myopathy Image Centronuclear myotubular myopathy.JPEG Caption Muscle ... myopathy due to a mutation in the myotubularin MTM1 gene and extremely skewed X inactivation H&E ..., the X linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy. However, some centronuclear myopathies may present later in life. Terminology Although all forms of centronuclear myopathy are considered rare, the most commonly known form of CNM is Myotubular Myopathy MTM . The terms centronuclear myopathy and myotubular myopathy are sometimes equated. ref DorlandsDict five 000069759 centronuclear myopathy ref Literally, a myopathy is a disease ... In 1966, Dr. Spiro a New York City neurologist published a medical report of a boy with myopathy ... Spiro A, Shy G, Gonatas N title Myotubular myopathy. Persistence of fetal muscle in an adolescent boy .... Thus, he coined the term myotubular myopathy . Spiro speculated that the embryonic muscle development he had seen in the boy was due to growth arrest during the myotubular phase, causing the myopathy ... be acceptable for infant onset myotubular myopathy mutations at the MTM1 gene on the X chromosome , but may not be acceptable for the autosomal forms of centronuclear myopathy. ref http www.ncbi.nlm.nih.gov entrez dispomim.cgi?id 160150 Myotubular Myopathy, Autosomal Dominant Online Mendelian Inheritance ... 271 6 year 2006 pmid 16893562 doi 10.1016 j.acthis.2006.05.004 ref Regardless of whether the myopathy is caused by arrest at the myotubular stage, for historical reasons the name myotubular myopathy ... myopathy MTM , when a Genetics genetic abnormality on the X chromosome was determined to be involved ..., is called myotubularin . Incidence The overall incidence of myotubular myopathy is 1 in 50,000 ... Myopathy The University of Chicago Genetic Services. ref The incidence of other centronuclear ... s muscular dystrophy . Approximately 80 of males with a diagnosis of myotubular myopathy by muscle ... more details
Metabolic myopathies are Myopathy Myopathies that result from defects in biochemical metabolism that primarily affect muscle. They include 1 Glycogen storage diseases 2 Lipid storage disorder 3 Phosphocreatine stores disorder External links http www.emedicine.com neuro TOPIC672.HTM Metabolic Myopathies eMedicine PNS diseases of the nervous system Soft tissue disorders Category Muscular disorders Category Metabolic disorders disease stub ... more details
Mitochondrial toxicity is a condition in which the mitochondrion mitochondria of a body s cells become damaged or decline significantly in number it occurs as a side effect of certain antiretroviral drug s used to treat human immunodeficiency virus, or HIV . Causes While the exact causes of mitochondrial toxicity are not known, research has shown that a certain group of anti viral drugs used to treat HIV, specifically nucleoside analog reverse transcriptase inhibitor s NRTIs , interfere with an enzyme needed in the production of mitochondria. ref http www.thebody.com pinf mitochondrial.html ref Symptoms The disruption of cell function that accompanies the condition can cause both mild and severe problems in people suffering from mitochondrial toxicity. The most commonly observed symptom is muscle weakness, or myopathy . Others include peripheral neuropathy numbness in the fingers and toes and pancreatitis inflammation of the pancreas , with the most severe being lactic acidosis , in which a build up of lactic acid in the tissues of the body leads to loss of energy, organ failure, and eventually death. ref http www.projinf.org fs mito b.html ref References references External links Mitochondrial toxicity at http www.hivnet.org OverHivEnAids Alternatief BrochureBijwerkingenEngels Mitochondrial 20toxicity.htm hiv.org Category Toxicology medical stub med toxic stub sl Mitohondrijska toksi nost ... more details
Infobox Disease Name Inflammatory myopathy Image Dermatomyositis intermed mag.jpg Caption Micrograph of dermatomyositis , a type of inflammatory myopathy. Muscle biopsy . H&E stain . DiseasesDB 29473 ICD10 ICD10 M 33 m 30 , ICD10 G 72 4 g 70 ICD9 ICD9 359.6 , ICD9 710.3 ICD9 710.4 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D009220 Inflammatory myopathy is a form of myopathy that involves inflammation of the muscle. Inflammatory myopathy is generally synonymous to the term dermatopolymyositis , which, according to ICD 10 encompasses three related diseases polymyositis , dermatomyositis , and inclusion body myositis . ref http apps.who.int classifications apps icd icd10online ?gm30.htm m33 ICD 10 M33 Dermatopolymyositis ref ref name BarnesHilton Jones2003 cite book author1 Phillip R. J. Barnes author2 David Hilton Jones title Myopathies in Clinical Practice url http books.google.com ?id 4Qs2e4rPM4kC&pg PA85 accessdate 26 June 2010 year 2003 publisher Informa Health Care isbn 9781899066711 pages 85 ref Diagnosis Inflammatory myopathy can be associated with increased Erythrocyte sedimentation rate ESR and creatine kinase . Dermatopolymyositis can be associated with several types of autoantibodies Anti Jo1 antibodies , ref name pmid9067664 cite journal author Kalenian M, Zweiman B title Inflammatory myopathy, bronchiolitis obliterans organizing pneumonia, and anti Jo 1 antibodies an interesting association journal Clinical and diagnostic laboratory immunology volume 4 issue 2 pages 236 40 year 1997 month March pmid 9067664 pmc 170510 doi url http cvi.asm.org cgi pmidlookup?view long&pmid 9067664 ref which is associated with a more abrupt onset of fever, cracked hands, Raynaud s phenomenon , interstitial lung disease , arthritis , and a poor response to therapy. ref name agabegi2nd254 Page 254 in cite book author Elizabeth D Agabegi Agabegi, Steven S. title Step Up to Medicine Step Up Series publisher Lippincott Williams & Wilkins location Hagerstwon, MD year ... more details
Infobox disease Name Brody myopathy Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 601003 MedlinePlus eMedicineSubj eMedicineTopic MeshID GeneReviewsID GeneReviewsName Brody myopathy is a genetic disease. It can be associated with ATP2A1 . ref name pmid8841193 cite journal author Odermatt A, Taschner PE, Khanna VK, et al. title Mutations in the gene encoding SERCA1, the fast twitch skeletal muscle sarcoplasmic reticulum Ca2 ATPase, are associated with Brody disease journal Nat. Genet. volume 14 issue 2 pages 191 4 year 1996 month October pmid 8841193 doi 10.1038 ng1096 191 ref It was characterized in 1969. ref name pmid4239835 cite journal author Brody IA title Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor journal N. Engl. J. Med. volume 281 issue 4 pages 187 92 year 1969 month July pmid 4239835 doi 10.1056 NEJM196907242810403 url http www.nejm.org doi abs 10.1056 NEJM196907242810403?url ver Z39.88 2003&rfr id ori rid crossref.org&rfr dat cr pub 3dpubmed ref References reflist Ion pump disorders disease stub Category Genetic disorders ... more details
symptoms are often called a mitochondrialmyopathy . Classification In addition to the mitochondrial ... exercise intolerance MELAS Mitochondrialmyopathy, encephalomyopathy, lactic acidosis, stroke like symptoms MELAS mtDNA depletion mitochondrial neurogastrointestinal encephalomyopathy MNGIE Nota bene Conditions such as Friedreich s ataxia can affect the mitochondria , but are not associated with mitochondrial ... myopathy Colby Wren References Reflist 2 External links Commons category Mitochondrial diseases ...Unreferenced section date December 2011 Infobox Disease Name Mitochondrial disease Image Ragged red fibres gtc very high mag.jpg Caption Micrograph showing ragged red fibres, a finding seen in mitochondrial ... Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria , the organelle ... ATP that powers most cell functions. Mitochondrial diseases are often caused by genetics or mutations to the mitochondrial DNA that affect mitochondria function. Mitochondrial diseases take on unique ... age can be due to mitochondrial disease Diabetes mellitus and deafness can also be found together for other ..., and dementia. Characteristics The effects of mitochondrial disease can be quite varied. Since the distribution of the defective mitochondrial DNA may vary from organ to organ within the body, and each ... severely, leading to multi system diseases. Mitochondrial diseases as a rule are worse when the defective ... author Finsterer J title Hematological manifestations of primary mitochondrial disorders journal ... because these cells use more energy than most other cells in the body. Although mitochondrial diseases ... consequences. Causes Mitochondrial disorders may be caused by mutations , acquired or inherited, in mitochondrial DNA mtDNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondrial dysfunction due to adverse effects of drugs , infections ... the mother. Mitochondrial DNA, however, is strictly inherited from the mother and each mitochondrial ... more details
Infobox Disease Name Thyrotoxic myopathy Image Caption DiseasesDB ICD10 ICD9 ICD9 359.5 ICDO OMIM MedlinePlus eMedicineSubj article eMedicineTopic 1170469 MeshID Thyrotoxic myopathy TM is a neuromuscular disorder that develops due to the overproduction of the thyroid hormone thyroxine . Also known as hyperthyroid myopathy, TM is one of many myopathies that lead to muscle weakness and muscle tissue breakdown. Evidence indicates the onset of TM may be caused by hyperthyroidism Kazakov, 1992 . There are currently two known causes of hyperthyroidism that lead to development of TM including a multinodular goiter and Graves disease . Physical symptoms of TM may include muscle weakness, the breakdown of muscle tissue, fatigue, and heat intolerance Quin, 1951 . Physical acts such as lifting objects and climbing stairs may become increasingly difficult Horak, 2000 . If untreated TM can be an extremely debilitating disorder that can, in extreme rare cases, lead to death. If diagnosed and treated properly the effects of TM can be controlled and in most cases reversed leaving no lasting effects. Symptoms Physical Symptoms may include Muscle Weakness Degeneration of Muscle Tissue Fatigue Heat intolerance Chronic TM Symptoms of chronic TM arise slowly overtime. Patients usually complain of decreased exercise tolerance, increased fatigue, and difficulty completing certain tasks after six months ... decrease in contraction response. Blood tests are then conducted to determine the specific myopathy ... End Plates in Thyrotoxic Myopathy.2 343 349 1992 Kazakov V Pathogenesis of thyrotoxic myopathy ... VM Differential diagnosis of thyrotoxic myopathy. Klinicheskaya Meditsina 69 107 111.1991 . Kazakov VM, Katinas GS, Skorometz AA Pathogenesis of experimental thyrotocis myopathy. European Neurology 25 212 224.1986 . Kazakov VM, Kovalenko TM Experimental thyrotoxic myopathy autoradiography of protein ... thyrotoxic myopathy report of a case. Journal of Clinical Endocrinology 11 1564 1571.1951 . Riis ALD ... more details
Mitochondrial biogenesis is the process by which new mitochondria are formed in the cell. Mitochondrial biogenesis is activated by numerous different signals during times of cellular stress or in response to environmental stimuli. The mitochondrion is a key regulator of the metabolic activity of the cell, and is also an important organelle in both production and degradation of free radicals. It is thought that higher mitochodrial copy number or higher mitochondrial mass is protective for the cell. Mitochondria are produced from the transcription and translation of genes both in the nuclear genome and in the Mitochondrial DNA mitochondrial genome . The majority of mitochondrial protein comes from the nuclear genome, while the mitochondrial genome encodes most parts of the electron transport chain along with mitochondrial rRNA and tRNA . A major adaptation to mitochondrial biogenesis results in more mitochondrial tissues which increases metabolic enzymes for glycolysis, oxidative phosphorylation and ultimately a greater mitochondrial metabolic capacity. Peter D. Wagner Summer 2011 Lecture cn date October 2011 The master regulators of mitochondrial biogenesis appear to be the peroxisome proliferator activated receptor gamma PGC family of transcriptional coactivators, including PPARGC1A PGC 1 , PPARGC1B PGC 1 , and the PGC related coactivator, PRC. PGC 1 , in particular, is thought to be a master regulator. It is known to co activate nuclear respiratory factor 2 GABPA NRF2 GABPA , and together with NRF 2 coactivates nuclear respiratory factor 1 NRF1 . The NRFs, in turn, activate the mitochondrial transcription factor A TFAM tfam , which is directly responsible for transcribing nuclear encoded mitochondrial proteins. This includes both structural mitochondrial proteins as well as those involved in Human mitochondrial genetics Replication.2C repair.2C transcription.2C and translation mtDNA transcription, translation, and repair . See also mitochondria References Unreferenced ... more details
Mitochondria can divide by fission and since they require mitochondrial DNA for their function, fission is coordinated with Mitochondrial DNA Replication DNA replication . Some of the proteins that are involved in mitochondrial fission have been identified and some of them are associated with mitochondrial disease s. ref Cite pmid 21776419 ref Mechanism The DNM1L Drp1 protein is a member of the Dynamin family of large GTPases . Drp1 controls the final part of mitochondrial fission, pinching off the membrane stalk between two forming daughter mitochondria. The MFN2 protein is part of a complex that links the endoplasmic reticulum ER to mitochondria. Points of ER mitochondrial association have been associated with the formation of Drp1 complexes and mitochondrial fission. ref Cite pmid 21885730 ref Several Drp1 binding proteins have been identified. ref Cite pmid 21772324 ref A protein called mitochondrial fission factor Mff binds Drp1 and promotes mitochondrial fission. ref Cite pmid 21149567 ref The FIS1 protein might recruit Drp1 to sites of fission ref Cite pmid 21647385 ref but it might require association with another protein, MIEF1 coded for by the SMCR7L gene , to promote mitochondrial fission. In contrast, MIEF1 when bound to Drp1 might prevent mitochondrial fission and thus shift the balance towards fusion of mitochondria. ref Cite pmid 21701560 ref References reflist Category Mitochondria ... more details
Infobox Disease Name Mitochondrial encephalomyopathy Image Caption DiseasesDB ICD10 ICD9 ICD9 277.87 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D017237 A Mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial disease . Examples include Mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes MELAS and MERRF syndrome MERRF . These conditions can sometimes present together. ref name pmid14967777 cite journal author Melone MA, Tessa A, Petrini S, et al title Revelation of a new mitochondrial DNA mutation G12147A in a MELAS MERFF phenotype journal Arch. Neurol. volume 61 issue 2 pages 269 72 year 2004 month February pmid 14967777 doi 10.1001 archneur.61.2.269 url http archneur.ama assn.org cgi pmidlookup?view long&pmid 14967777 ref ref name pmid15767514 cite journal author Naini AB, Lu J, Kaufmann P, et al title Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF journal Arch. Neurol. volume 62 issue 3 pages 473 6 year 2005 month March pmid 15767514 doi 10.1001 archneur.62.3.473 url http archneur.ama assn.org cgi pmidlookup?view long&pmid 15767514 ref Kearns Sayre syndrome KSS is sometimes included in this category, ref name pmid8350109 cite journal author Crimmins D, Morris JG, Walker GL, et al title Mitochondrial encephalomyopathy variable clinical expression within a single kindred journal J. Neurol. Neurosurg. Psychiatr. volume 56 issue 8 pages 900 5 year 1993 month August pmid 8350109 pmc 1015147 doi 10.1136 jnnp.56.8.900 url http jnnp.bmj.com cgi pmidlookup?view long&pmid 8350109 ref but it is not included in this category in Medical Subject Headings MeSH . References reflist 2 Mitochondrial diseases Category Neurotrauma disease stub zh ... more details
2 title pH difference across the outer mitochondrial membrane measured with a green fluorescent protein ... ref Citric acid cycle The citric acid cycle or Krebs cycle or TCA cycle takes place within the mitochondrial ... transport chain The electron transport chain is located in the cristae of the inner mitochondrial membrane ... by oxygen in the matrix to complete the electron transport chain. The protons return to the mitochondrial ... Matrix biology References Reflist Mitochondrial enzymes DEFAULTSORT Mitochondrial Matrix Category Cell ... more details
Pfam box Symbol Mito carr Name image 1okc opm.gif width 220 caption Mitochondrial ADP ATP carrier Pfam PF00153 InterPro IPR001993 SMART PROSITE PDOC00189 SCOP 1okc TCDB 2.A.29 OPM family 21 OPM protein 1okc PDB PDB3 2bmn A 9 104 PDB3 2c3e A 112 206 PDB3 1ymj A 112 206 PDB3 1okc A 112 206 PDB3 1ym6 A 112 206 Mitochondrial carriers are proteins from the solute carrier family which transfers molecules across the membranes of the mitochondria . ref name Nury 2006 cite journal author Nury H, Dahout Gonzalez C, Tr z guet V, Lauquin GJ, Brandolin G, Pebay Peyroula E title Relations between structure and function of the mitochondrial ADP ATP carrier journal Annu. Rev. Biochem. volume 75 issue pages 713 ... mitochondrial membrane inner membranes of mitochondria and other eukaryotic organelles such as the peroxisome ... author Walker JE title The mitochondrial transporter family journal Curr. Opin. Struct. Biol. volume ... journal author Kuan J, Saier Jr MH title Expansion of the mitochondrial carrier family journal Res ... Site directed mutagenesis of the yeast mitochondrial ADP ATP translocator. Six arginines and one lysine ... 10.1006 jmbi.1993.1233 ref ref name PUB00001675 cite journal author Palmieri F title Mitochondrial ... B title PMP47, a peroxisomal homologue of mitochondrial solute carrier proteins journal Trends ... transport protein Graves disease carrier protein yeast mitochondrial proteins MRS3 and MRS4 yeast mitochondrial FAD carrier protein and many others. Structure All mitochondrial carriers are encoded by nuclear ... the members of the mitochondrial carrier family that have been identified, it is the ADP ATP carrier ... of ADP ATP carrier translocation across the outer mitochondrial membrane journal J. Biol. Chem. volume ... dynamics of the mitochondrial ADP ATP carrier revealed by molecular dynamics simulation studies journal ... pdbe apps quips?story ATPexchange Getting a good rate of exchange the mitochondrial ADP ATP carrier ... families Category Transmembrane proteins membrane protein stub Membrane transport proteins Mitochondrial ... more details
Infobox album See Wikipedia WikiProject Albums Name Mitochondrial Blues Type Album Artist Noah23 Cover Noah23 mitochondrial blues.jpg Released July 27, 2004 Recorded 2003 2004 Genre Hip hop music Hip hop Length 56 26 Label Legendary Entertainment br Noah23 Plague Language Producer Blue Sky Black Death Orphan , Sseleman, Noah23 , Andrew H, DMS, Krinjah, King Champion, Naught, Dustmite Last album Ancient Israelites Older Than Anorthosite br 2004 This album Mitochondrial Blues br 2004 Next album Sigma Octantis album Sigma Octantis br 2004 Mitochondrial Blues is a 2004 album by hip hop artist Noah23 . This album was released simultaneously with Sigma Octantis album Sigma Octantis , as both albums are the product of the same recording sessions as Noah s higher profile 2004 album Jupiter Sajitarius . Track listing Silicate Magma Chamber Crunch Search and Destroy Harvest Remix Orange Dolphin Pure Vibes ft. Fake Four Inc Ceschi & Troubadour Twist of Fate ft. Baracuda rapper Baracuda Homewood ft. Feelix Enterworld ft. B One & Vex Bliss TS4 Freestyle Mechanical Bull ft. Baracuda Yed Posterior ft. Erosadis, Hangnail & Homesick Dustmite Data Hooks ft. Baracuda Drowning in You ft. AnuCongo Trilateral Damage ft. Orko the Sykotik Alien & StapleMouth Production credits Tracks 1, 5, 7, 14 & 16 produced by Blue Sky Black Death Orphan Tracks 6, 9 & 15 produced by Sseleman Track 2 produced by Noah23 as Warhol Track 3 produced by Andrew H Track 4 produced by DMS Track 8 produced by Krinjah Track 11 produced by King Champion Track 12 produced by Naught Track 13 produced by Dustmite Category 2004 albums Category Noah23 albums 2000s hiphop album stub ... more details
Image Mitochondrial DNA en.svg thumb 300px right Human mitochondrial DNA. File Electron microscopy reveals mitochondrial DNA in discrete foci.jpg thumb Electron microscopy reveals mitochondrial DNA in discrete ... marking mtDNA are found near the mitochondrial membrane. B Whole mount view of cytoplasm after ... H, Cook PR title The functional organization of mitochondrial genomes in human cells journal BMC ... www.biomedcentral.com 1741 7007 2 9 ref Mitochondrial DNA mtDNA or mDNA ref cite web last Sykes first B title Mitochondrial DNA and human history url http genome.wellcome.ac.uk doc WTD020876.html work ... . Mitochondrial DNA can be regarded as the smallest chromosome , and was the first significant part ... has become important in anthropology and field biology. Origin Nuclear and mitochondrial DNA are thought ... target molecules by exponential polymerase chain reaction, copy number of mitochondrial DNA in rat ... origin, having since been transferred to the eukaryotic nucleus during evolution . Mitochondrial ... injecting a sperm into an oocyte , may interfere with this. The fact that mitochondrial DNA ... region s HVR1 or HVR2 of the mitochondrial DNA, as with a genealogical DNA test . HVR1 consists ... issn 0036 8075 pmid 9180076 issue 5319 ref The concept of the Mitochondrial Eve is based ... limited biparental inheritance of Mytilus mitochondrial DNA journal Science volume 251 pages 1488 1490 ... mitochondrial DNA by PCR selective amplification method, journal Genet. Res. volume 59 issue ... Meusel MS, Moritz RF title Transfer of paternal mitochondrial DNA during fertilization of honeybee ... of male mitochondrial inheritance in some mammals as well. Specifically, documented occurrences ... inheritance of mitochondrial DNA in mice journal Nature volume 352 issue 6332 pages 255 7 year 1991 ... X, Li N, Guo W, et al. title Further evidence for paternal inheritance of mitochondrial DNA in the sheep ... J, et al. title Composition of parental mitochondrial DNA in cloned bovine embryos journal FEBS ... more details
Selection An Improved Human Mitochondrial Molecular Clock. and its http download.cell.com AJHG ... Human mitochondrial DNA haplogroup Mitochondrial macro haplogroups Haplogroup L0 mtDNA L0 ... , Mitochondrial Eve refers to the matrilineal most recent common ancestor MRCA of modern humans . In other ... person. Because all mitochondrial DNA mtDNA is generally passed from mother to offspring without recombination biology recombination , all mitochondrial DNA mtDNA in every living person is directly descended from hers by definition. Mitochondrial Eve is the female counterpart of Y chromosomal Adam ... now with one or more males in their descendancy line . But none of the female contemporaries of the Mitochondrial Eve has descendants living now in an unbroken female line. Mitochondrial Eve is estimated ... N, et al. title Correcting for purifying selection an improved human mitochondrial molecular clock ... other human sub species. Mitochondrial Eve lived later than Homo heidelbergensis and the emergence ... first3 M last4 Stringer first4 C title Evaluating the mitochondrial timescale of human evolution ... and mitochondrial ancestry further2 Genetic genealogy matrilineal Mitochondrial DNA Human mitochondrial ... drift or selection the female lineage will trace back to a single female, such as Mitochondrial Eve ... line descended from mtDNA MRCA. File Mitochondrial eve tree.gif thumb right 250px Simplified Human mitochondrial phylogeny Without a DNA sample, it is not possible to reconstruct the complete genetic ... of ancestral genomes are estimated by scientists. Mitochondrial DNA mtDNA and Y chromosome Y chromosome ... of human mitochondrial DNA journal PNAS volume 77 issue 11 pages 6715 6719 url http www.pnas.org ... lineages converge. Branches are identified by one or more unique markers which give a mitochondrial ... sort mitochondrial DNA results into more or less related groups, with more or less recent common ancestors ... clade s, and the common ancestors such as Mitochondrial Eve sit at branching points in this tree ... more details
Orphan date December 2010 PBB geneid 94033 Mitochondrial ferritin is a ferroxidase enzyme that in humans is encoded by the FTMT gene . ref name pmid11323407 cite journal author Levi S, Corsi B, Bosisio M, Invernizzi R, Volz A, Sanford D, Arosio P, Drysdale J title A human mitochondrial ferritin encoded by an intronless gene journal J. Biol. Chem. volume 276 issue 27 pages 24437 40 year 2001 month July pmid 11323407 doi 10.1074 jbc.C100141200 url issn ref It is classified as a metal binding protein which is located within the mitochondrion mitochondria . After the protein is taken up by the mitochondria it can be processed into a mature protein and assemble functional ferritin shells. Structure Its structure was determined at 1.70 through the use of X ray diffraction and contains 182 residues. It is 67 helical. The Ramachandran plot shows that the structure of mitochondrial ferritin is mainly alpha helical with a low prevalence of beta sheets. References reflist 2 Further reading refbegin 2 cite journal author Langlois d Estaintot B, Santambrogio P, Granier T, et al. title Crystal structure and biochemical properties of the human mitochondrial ferritin and its mutant Ser144Ala. journal ... in HeLa cells are rescued by the expression of human mitochondrial ferritin. journal Biochim. Biophys ... author Cazzola M, Invernizzi R, Bergamaschi G, et al. title Mitochondrial ferritin expression in erythroid ... R, et al. title Mitochondrial ferritin a new player in iron metabolism. journal Blood Cells Mol. Dis ... P, et al. title Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron ... EL, Ray PD, Tsuji Y title Role and regulation of ferritin H in rotenone mediated mitochondrial ... P, Levi S, et al. title Unique iron binding and oxidation properties of human mitochondrial ... SM, et al. title Mitochondrial ferritin in the substantia nigra in restless legs syndrome. journal ... 10.1097 NEN.0b013e3181bdc44f refend DEFAULTSORT Mitochondrial Ferritin Category EC 1.16.3 Category ... more details
The mitochondrial shuttles are systems used to transport reducing agents across the inner mitochondrial membrane . NADH cannot cross the membrane, but it can reduce another molecule that can cross the membrane, so that its electrons can reach the electron transport chain . The two main systems in humans are class wikitable Name In, to mitochondrion To electron transport chain ETC Out, to cytosol Glycerol phosphate shuttle glycerol 3 phosphate Coenzyme Q QH sub 2 sub 2 ATP dihydroxyacetone phosphate Malate aspartate shuttle malate Nicotinamide adenine dinucleotide NADH 3 ATP oxaloacetate ref name ufp Silva, Pedro. http www2.ufp.pt pedros bq respi.htm The chemical logic behind... Fermentation and Respiration , Universidade Fernando Pessoa , 2002 01 04. Retrieved on 2009 04 02. ref aspartate In humans, the glycerol phosphate shuttle is primarily found in brown adipose tissue , as the conversion is less efficient, thus generating heat, which is one of the main purposes of brown fat. It is primarily found in babies, though it is present in small amounts in adults around the kidneys and on the back of our necks. ref name ufp The malate aspartate shuttle is found in much of the rest of the body. Notes and references reflist Category Cellular respiration biochem stub ca Llan adora mitocondrial zh ... more details
refimprove date June 2010 Infobox Disease Name PAGENAME Image Caption DiseasesDB 32948 ICD10 ICD9 ICD9 277.87 ICDO OMIM 603041 MedlinePlus eMedicineSubj eMedicineTopic MeshID Mitochondrial neurogastrointestinal encephalopathy syndrome MNGIE , also called myoneurogastrointestinal encephalopathy syndrome or POLIP syndrome , ref name omim OMIM 603041 ref is a rare autosome autosomal dominance genetics recessive ref name mnear cite pmid 19056268 ref mitochondrial disease usually appearing between the second and fifth decades of life. Unlike typical mitochondrial diseases caused by mitochondrial DNA mtDNA mutations, MNGIE is caused by mutations in the ECGF1 TYMP gene, which encodes the enzyme thymidine phosphorylase. ref name omim A secondary form of MNGIE, called MNGIE without leukoencephalopathy , can be caused by mutations in the POLG gene. ref name omim Signs and symptoms MNGIE is a multisystem disorder. Gastrointestinal symptoms may include gastrointestinal dysmotility possibly resulting in pseudo obstruction in which the muscular contractions peristalsis of the gastrointestinal tract become inefficient causing malabsorption . Borborygmi stomach rumbling , early satiety, diarrhea, constipation, gastroparesis , nausea, vomiting, weight loss, diverticulitis . Neurological symptoms may include diffuse leukoencephalopathy , peripheral neuropathy , and myopathy .Ocular symptoms may include retinal degeneration, ophthalmoplegia paralysis of eye muscles , ptosis drooping eyelids . Those with MNGIE are often thin, experiencing continuous weight loss. References reflist External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part mngie GeneReview NIH UW entry on Mitochondrial Neurogastrointestinal Encephalopathy Disease Mitochondrial diseases Inborn errors of purine pyrimidine metabolism DEFAULTSORT Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Category Mitochondrial diseases Category Rare diseases Category Syndromes Category Autosomal recessive di ... more details
Infobox Disease Name X linked myotubular myopathy Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 310400 MedlinePlus eMedicineSubj eMedicineTopic MeshID X linked myotubular myopathy is a myopathy associated with myotubularin 1 . Genetically inherited traits and conditions are often referred to based upon whether they are located on the sex chromosome s the X or Y chromosomes versus whether they are located on autosomal chromosomes chromosomes other than the X or Y . Thus, genetically inherited conditions are categorized as being sex linked e.g., X linked or autosomal . Females have two X chromosomes while males only have a single X chromosome, and a genetic abnormality located on the X chromosome is much more likely to cause clinical disease in a male who lacks the possibility of having the normal gene present on any other chromosome than in a female who is able to compensate for the one abnormal X chromosome . The X linked form of MTM CNM is the most commonly diagnosed type. Almost all cases of X linked MTM occurs in males. Females can be carriers for an X linked genetic abnormality, but usually they will not be clinically affected themselves. Two exceptions for a female with a X linked ... linked myotubular myopathy in a girl with skewed X inactivation journal Neuromuscul Disord volume ... also can clinical myopathy in girls, for the reasons noted above. Thus, experts recommend that girls with myopathy and a muscle biopsy showing a centronuclear pattern be tested for MTM1 mutations. ref ... that the genetic abnormality for myotubular myopathy MTM is X linked XL , having been identified ... mutation site identified for myotubular or centronuclear myopathy. Clinical suspicion for X linked ... mutation site causing centronuclear myopathy is the MTM1 gene. External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part mtm GeneReview NCBI NIH UW entry on X Linked Myotubular Myopathy ... signaling peptides and proteins DEFAULTSORT X Linked Myotubular Myopathy Category Myoneural ... more details
Acquired non inflammatory myopathy is a neurological condition that occurs most commonly due to hyperthyroidism and high dosage steroid treatment. If affects and weakens the muscles of the shoulder girdle, but is usually asymptomatic. Infrequently, weakness of the muscles on the trunk and proximal limbs can occur. Other causes of this condition are alcoholism, drug induced states, disturbances of vitamin D and calcium metabolism, Addison s disease, among others. ref name Essential Neurology, 2005 Essential Neurology, 2005 ref References reflist Category Neurological disorders Neuroscience stub ... more details
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