Unreferenced section date December 2011 Infobox Disease Name Mitochondrialdisease Image Ragged red fibres gtc very high mag.jpg Caption Micrograph showing ragged red fibres, a finding seen in mitochondrial ... age can be due to mitochondrialdisease Diabetes mellitus and deafness can also be found together for other ..., and dementia. Characteristics The effects of mitochondrialdisease can be quite varied. Since ... for more detailed inheritance patterns, see Human mitochondrial genetics . Mitochondrialdisease ... in nuclear encoded mitochondrial genes are associated with hundreds of clinical disease phenotypes ... successfully transplanted healthy DNA in human eggs from women with mitochondrialdisease ... in human embryos to prevent transmission of mitochondrial DNA disease journal Nature volume 465 issue ... as a possible treatment for inherited mitochondrialdisease, and allotopic expression of mitochondrial ... States will develop mitochondrialdisease by the age of 10 years. Up to 4,000 children per year in the US are born with a type of mitochondrialdisease. ref http biochemgen.ucsd.edu mmdc brochure.htm ... that produce mitochondria. People Notable people who suffered from mitochondrialdisease include ... www.umdf.org United MitochondrialDisease Foundation Mitochondrial diseases Category 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 ... are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often called a mitochondrial myopathy . Classification In addition to the mitochondrial ... and retina Wolff Parkinson White syndrome multiple sclerosis type disease affects 1 in 50,000 people in Finland Leigh syndrome , subacute sclerosing encephalopathy after normal development the disease ... 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 mitochondrialdisease 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 mitochondrialdisease . 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
Refimprove date February 2008 Infobox Disease Name PAGENAME Image Animal mitochondrion diagram en edit .svg Caption Simplified structure of a typical mitochondrion DiseasesDB ICD10 ICD10 G 71 3 g 70 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D017240 Mitochondrial myopathy is a type of myopathy associated with mitochondrialdisease . On biopsy, the muscle tissue of patients with this disease usually demonstrate ragged red muscle fibers. These ragged red 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 . Inheritance is maternal Non Mendelian inheritance Extranuclear inheritance non Mendelian extranuclear . There are several subcategories of mitochondrial myopathies. Treatment Although no cure currently exists, there is hope in treatment for this class of hereditary disease s with the use of an embryotic Protofection mitochondrial transplant . ref Name BBC 5 February 2008 cite web title Three parent embryo formed in lab work Scientists believe they have made a potential breakthrough in the treatment of serious disease by creating a human embryo with three separate parents. publisher BBC News date 5 February 2008 , 11 13 GMT url http news.bbc.co.uk 2 hi health 7227861.stm format web doi accessdate 2008 02 08 ref anchor Variations of the Disease Signs and symptoms Signs and symptoms include Mitochondrial encephalomyopathy, lactic acidosis, and stroke like syndrome MELAS Varying degrees of cognitive impairment and dementia Lactic acidosis Stroke s Transient ischemic attack s Hearing loss Weight loss Myoclonic epilepsy and ragged ... Symptomatic overlap with other mitochondrial myopathies References reflist Diseases of myoneural junction and muscle Mitochondrial diseases Category Myoneural junction and neuromuscular diseases Category Mitochondrial diseases pt Miopatia mitocondrial zh ... more details
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 ...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 ... 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
See Mitochondrialdisease Mutations of mitochondrial DNA can lead to a number of illnesses including ... Human mitochondrial DNA haplogroup Human mitochondrial genetics MitochondrialdiseaseMitochondrial ...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 ... 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
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
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
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
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 February 2012 Infobox television episode Title The Disease Image File ST VOY The Disease.jpg 270px Caption Harry Kim becomes intimate with Varro scientist Tal. Series Star Trek Voyager Season 5 Episode 17 Production 210 Airdate Startdate 1999 02 24 Teleplay Michael Taylor screenwriter Michael Taylor Story Kenneth Biller Director David Livingston director David Livingston Music Dennis McCarthy composer Dennis McCarthy Guests Musetta Vander Tal Charles Rocket Jippeq Prev Dark Frontier Next Course Oblivion Star Trek Voyager Course Oblivion Episode list List of Star Trek Voyager episodes List of Star Trek Voyager episodes NOTOC for an abnormal condition affecting the body of an organism Disease The Disease is the 111th episode of Star Trek Voyager , the 17th episode of the fifth season. The episode had an average rating of 4.2 5 on the official Star Trek website as of August 23, 2007 . ref cite web publisher StarTrek.com url http www.startrek.com startrek view series VOY episode 104851.html title The Disease accessdate 2007 08 23 ref Plot Voyager stops to assist a xenophobic species known as the Varro. This species lives on a Generation ship generational ship which has housed them for 400 years. While the crew works on the Varro ship, Voyager is infested with synthetic ship eating parasites that had been released on the Varro ship by dissident Varro. Meanwhile, Harry Kim Star Trek Harry Kim becomes intimate with Varro scientist Tal, and develops a physiological bond with her, one that is standard in the Varro. The physiological connection alters his behavior and sways him from his duties aboard Voyager . It is later revealed that Tal is one of the separatists. There has been a rumour of a minority of Varro that want off the ship. The parasites that Tal helped create were made to separate the individual pods of the Varro ship without destroying the ship itself ... Star Trek DEFAULTSORT Disease, The Category Star Trek Voyager episodes Category 1999 television episodes ... 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 mitochondrialdisease 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 DiseaseMitochondrial diseases Inborn errors of purine pyrimidine metabolism DEFAULTSORT Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Category Mitochondrial diseases Category Rare diseases Category Syndromes Category Autosomal recessive disorders ... more details
Image LCHAD deficiency.jpg right thumb 400px Schematic demonstrating mitochondria l fatty acid beta oxidation and effects of long chain 3 hydroxyacyl coenzyme A dehydrogenase deficiency long chain 3 hydroxyacyl coenzyme A dehydrogenase deficiency, LCHAD deficiency Mitochondrial trifunctional protein is a protein which catalyzes several reactions in beta oxidation . It has two subunits HADHA HADHB The three functions are long chain 3 hydroxy acyl coenzyme A dehydrogenase , 2 enoyl coenzyme A CoA hydratase , and long chain 3 ketoacyl CoA thiolase . ref name urlLong Chain Acyl CoA Dehydrogenase Deficiency eMedicine Pediatrics Genetics and Metabolic Disease cite web url http emedicine.medscape.com article 945857 overview title Long Chain Acyl CoA Dehydrogenase Deficiency eMedicine Pediatrics Genetics and Metabolic Disease format work accessdate 2009 07 11 ref Pathology Disorders are associated with Mitochondrial trifunctional protein deficiency Long chain 3 hydroxyacyl coenzyme A dehydrogenase deficiency LCHAD deficiency References reflist External links MeshName mitochondrial trifunctional protein TP Multienzyme complexes Lipid metabolism enzymes Mitochondrial enzymes Category Proteins protein stub ... more details
to all higher organisms for sustaining life. The mitochondrialdisease s are genetic disorder s carried in mitochondrial DNA, or nuclear DNA coding for mitochondrial components. Slight problems with any ... depending on the disease. Mitochondrial genetic mutations that occur in the nuclear DNA can occur ... of the disease may be masked. Because of the complex ways in which mitochondrial and nuclear DNA ... created by defective proteins made from nuclear DNA. Mitochondrial diseases Mitochondrialdisease ... 2004 . Naviaux, Robert. 1997 The Spectrum of MitochondrialDisease. Exceptional Parent Magazine ... 2004 . http www.umdf.org United MitochondrialDisease Foundation . Pittsburgh, PA. dl November 2004 ... November 2000 . Vladutiu, Georgirene D. 1997 Advances in MitochondrialDisease Research. Exceptional ...inline date April 2010 Human mitochondrial genetics is the study of the genetics of the DNA contained ... to use, and are hence referred to as the powerhouses of the cell. Mitochondrial DNA mtDNA is not transmitted through nuclear DNA nDNA . In humans, as in most multicellular organisms, mitochondrial DNA is inherited only from the mother s ovum . ref see Paternal mtDNA transmission ref Mitochondrial ... of mitochondrial DNA genetic code codes for functional mitochondrial proteins, and therefore most mitochondrial ... disorders. Mitochondrial function and genome Because they provide 36 molecules of ATP per glucose ... is very difficult 10 protons to enter the mitochondrial matrix along their concentration gradients ... lead to a number of diseases. Genome see Mitochondrial DNA Mitochondrial DNA mtDNA is present in mitochondria ... about 13 of them are coded on the mitochondrial DNA. Most of the 3000 proteins are involved in a variety ... copies of the mitochondrial genome are carried by each mitochondrion 2 10 in humans , mitochondrial ... of the 9 genes on the light strand code for mitochondrial tRNA molecules. Human mtDNA consists of 16,569 ... the origins of replication of both heavy and light strands. The entire human mitochondrial DNA ... more details
Refimprove date January 2008 Infobox Disease Name Mitochondrial trifunctional protein deficiency Image Caption DiseasesDB 34111 ICD10 ICD9 ICDO OMIM 609015 MedlinePlus eMedicineSubj ped eMedicineTopic 1284 MeshID Mitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder ref name faod cite journal author Solish JO, Singh RH title Management of fatty acid oxidation disorders a survey of current treatment strategies journal J Am Diet Assoc. volume 102 issue 12 pages 1800 1803 year 2002 pmid 12487544 doi 10.1016 S0002 8223 02 90386 X ref that prevents the body from converting certain fats to energy, particularly during periods without food . People with this disorder ... long chain fatty acids. Signs and symptoms Signs and symptoms of mitochondrial trifunctional protein ..., breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional ... Image autorecessive.svg thumb right Mitochondrial trifunctional protein deficiency has an Recessive ... mitochondrial trifunctional protein deficiency. These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy producing centers within cells. As the name suggests, mitochondrial trifunctional ... in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all three ..., heart, and muscles. This abnormal buildup causes the other signs and symptoms of mitochondrial trifunctional protein deficiency. Pathophysiology The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta oxidation of fatty acids long ... in the nervous system that affect arms and legs peripheral neuropathy . Episodes of mitochondrial ... . ref name faod Treatment There is no known cure for this disease. Although the mortality rate among ... and mortality. Epidemiology Mitochondrial trifunctional protein deficiency is a rare disorder its ... more details
The Mitochondrial Permeability Transition , or MPT , is defined as an increase in the permeability of the mitochondria ... weight. MPT results from the opening of a mitochondrial permeability transition pore , also known as the MPT ... . Induction of the permeability transition pore can lead to mitochondrial swelling and cell death ... TP, Zhong Z, Nieminen AL. Mitochondrial calcium and the permeability transition in cell death ... events inducing cell damage and death. ref Fiskum G. 2000. Mitochondrial participation in ischemic .... PMID 19076452 ref ref Lemasters JJ, Theruvath TP, Zhong Z, Nieminen AL. Mitochondrial calcium ... death two conformations for the mitochondrial permeability transition pore. Switching from low ... and&searchid 1&FIRSTINDEX 0&sortspec relevance&resourcetype HWCIT Mitochondrial dysfunction ... 22&andorexactfulltext and&searchid 1&FIRSTINDEX 0&sortspec relevance&resourcetype HWCIT Mitochondrial ... heart attack and stroke . ref name Honda Honda HM and Ping P. 2006. Mitochondrial permeability transition ... cgi content full 288 6 H2750 Low pressure reperfusion alters mitochondrial permeability transition .... The mitochondrial permeability transition in cell death A common mechanism in necrosis, apoptosis and autophagy .... ref MPT may also play a role in mitochondrial autophagy . ref name Lemasters Cells exposed to toxic ... were still capable to undergo MPT ref Szab I, Zoratti M. The mitochondrial permeability transition ... JD. Voltage dependent anion channels are dispensable for mitochondrial dependent cell death ... is not essential for the mitochondrial permeability transition pore. Nature. 2004 Jan 29 427 6973 ... carrier in the mitochondrial permeability transition pore. Mitochondrion. 2011 May 8 ... protein TSPO previously known as the peripheral benzodiazepine receptor located in the mitochondrial outer membrane and cyclophilin D in the mitochondrial matrix . ref Sileikyte J, Petronilli ... membrane mitochondrial permeability transition by the outer membrane translocator protein peripheral ... more details
Anti mitochondrial antibodies AMA are autoantibodies , consisting of immunoglobulins formed against mitochondria , ref MedlinePlus 003529 ref primarily mitochondria in cell biology cells of the liver . The presence of AMAs in the blood or blood plasma serum of a person is indicative of several autoimmune disease s such as primary biliary cirrhosis PBC a scarring of liver tissue, confined primarily to the bile duct drainage system of the liver . It is present in about 95 of cases. ref cite journal author Oertelt S, Rieger R, Selmi C, Invernizzi P, Ansari A, Coppel R, Podda M, Leung P, Gershwin M title A sensitive bead assay for antimitochondrial antibodies Chipping away at AMA negative primary biliary cirrhosis journal Hepatology volume 45 issue 3 pages 659 65 year 2007 pmid 17326160 doi 10.1002 hep.21583 ref Primary biliary cirrhosis is seen primarily in middle aged women, and in those afflicted with other autoimmune diseases. PBC is an autoimmune disorder , a condition in which the human body s immune defense system mistakenly attacks the body s own cells, or in this case parts of the cells. Cause of AMAs is postulated that xenobiotic induced and or oxidative modification of mitochondrial autoantigens is a critical step leading to loss of tolerance. In acute liver failure AMA are found against all major liver antigens. ref name pmid17657817 cite journal author Leung PS, Rossaro L, Davis PA, et al. title Antimitochondrial antibodies in acute liver failure Implications for primary biliary cirrhosis journal Hepatology Baltimore, Md. volume 46 issue 5 pages 1436 42 year 2007 pmid 17657817 doi 10.1002 hep.21828 ref Pyruvate dehydrogenase , E2 subunits oxoglutarate dehydrogenase ... mitochondrial membrane . Correlation with non mitochondrial antigens Fifty seven percent ... with gluten sensitive enteropathy see coeliac disease , Gluten sensitive enteropathy associated ... may cause the oxidative stress resulting in the modification of mitochondrial antigens and acute ... more details
Mitochondrial membrane transport proteins are protein s which exist in the plasma membrane membranes of mitochondria and which serve to transport ref MeshName Mitochondrial Membrane Transport Proteins ref molecule s and other factors such as ion s into or out of the organelles. Examples Examples of mitochondrial transport protein s include the following The mitochondrial permeability transition mitochondrial permeability transition pore , which opens in response to increased mitochondrial calcium Ca sup 2 sup load and oxidative stress ref name Crompton Crompton M. 1999. http www.biochemj.org bj 341 0233 bj3410233.htm The mitochondrial permeability transition pore and its role in cell death . Biochemical Journal . Volume 341, Pages 233 249. PMID 10393078. Retrieved on January 23, 2007. ref The mitochondrial calcium uniporter which transports calcium in biology calcium from the cytosol of the Cell biology cell into the mitochondrial matrix ref name Crompton ref name Nicholls Nicholls DG. 2005. Mitochondria and calcium signaling. Cell Calcium , Volume 38, Issues 3 4, Pages 311 317. PMID 16087232. Retrieved on January 23, 2007. ref The mitochondrial sodium calcium exchanger , which carries Ca sup 2 sup ions out of the matrix in exchange for sodium Na sup sup ions. These transport proteins serve to maintain the proper electrochemical gradient electrical and chemical gradient s in mitochondria by keeping ions and other factors in the right balance between the inside and outside of mitochondria. See also Mitochondrial carrier Membrane transport protein References references Membrane transport proteins Mitochondrial proteins Category Transport proteins Category mitochondria Category transmembrane proteins membrane protein stub zh ... more details
Orphan date September 2010 Infobox Journal title Mitochondrial DNA editor Rob DeSalle discipline CellBiology Genetics Evolution language English abbreviation MDN publisher Informa Healthcare Country UK Frequency 6 issues per year History First published 1990 openaccess no website http www.informahealthcare.com mdn impact 1.273 impact year 2010 link1 link1 name link2 link2 name RSS atom JSTOR OCLC LCCN CODEN ISSN 1940 1736 eISSN 1940 1744 Mitochondrial DNA is an academic journal that publishes Review journal review articles on the current and developing technologies around mitochondrial DNA research and discovery. It is published by Informa plc Informa Healthcare . Core Areas Coverage includes Discovery and description of mitochondrial genome sequences Structure and function of mtDNA genes and genomic features Molecular evolution, phylogenetics, population genetics Model and non model organisms ... and Scope Previously published under the title DNA Sequence Vols 1 19.3 , Mitochondrial DNA accepts original high quality reports based on mapping, sequencing and analysis of mitochondrial DNA and RNA. Descriptive papers on DNA sequences from mitochondrial genomes, and also analytical papers in the areas of population genetics, medical genetics, phylogenetics and human evolution that use mitochondrial ... address the use of mitochondrial DNA sequences, as well as papers that discuss the utility of mitochondrial ... desalle.amnh.org Rob DeSalle American Museum of Natural History is the Editor in Chief of Mitochondrial ... koloko.net Sergios Orestis Kolokotronis Barnard College, Columbia University . Special Issues Mitochondrial ... http informahealthcare.com toc mdn 22 S1 ref Publication Format Mitochondrial DNA publishes WebFirst ... to the online version is included in all subscriptions. Abstracting & Indexing Mitochondrial ... Scopus Zoological Record . References reflist 2 External links http www.informahealthcare.com mdn Mitochondrial DNA homepage of Mitochondrial DNA Category Publications established in 1980 Category Genetics ... more details
PBB geneid 56947 Mitochondrial fission factor Mff is a protein that in humans is encoded by the MFF gene . ref name entrez cite web title Entrez Gene mitochondrial fission factor url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 56947 accessdate ref Mff is an outer mitochondrial membrane protein that binds to the DNM1L Drp1 GTPases GTPase that controls mitochondrial fission . The Mff Drp1 complex promotes mitochondrial fission. ref Cite pmid 21149567 ref Mff also regulates peroxisome morphology. ref Cite pmid 18353969 ref References reflist Further reading refbegin cite journal author Igci YZ, Arslan A, Akarsu E, et al. title Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma. journal Endocr. Pathol. volume 22 issue 2 pages 86 96 year 2011 pmid 21509594 doi 10.1007 s12022 011 9157 8 refend gene 2 stub Category Mitochondria ... more details
Unreferenced date December 2009 image Mitochondrie.svg thumb 300px Mitochondria structure br 1 Inner membrane br 2 Outer membrane br 3 Crista br 4 Matrix biology Matrix The outer mitochondrial membrane , which encloses the entire organelle, has a protein to phospholipid ratio similar to the eukaryotic plasma membrane about 1 1 by weight . It contains numerous integral protein s called Porin protein porin s , which contain a relatively large internal channel about 2 3 Nanometre nm that is permeable to all molecules of 5000 Atomic mass unit dalton s or less. Larger molecules can only traverse the outer membrane by active transport through mitochondrial membrane transport protein s. The outer membrane also contains enzyme s involved in such diverse activities as the elongation of fatty acid s, oxidation of epinephrine adrenaline , and the Biodegradation degradation of tryptophan . Mitochondrial enzymes See also Bacterial outer membrane MITOL mitochondrial ubiqutin ligase is localized in the mitochondrial outer membrane. DEFAULTSORT Outer Mitochondrial Membrane Category Membrane biology ca Membrana mitocondrial externa zh ... more details
Image Mitochondrie.svg thumb 300px right Mitochondria structure 1 inner membrane, 2 outer membrane, 3 cristae, 4 matrix The mitochondria l inner membrane forms internal compartments known as crista e, which allow greater space for the proteins such as cytochrome s to function properly and efficiently. The electron transport chain is located on the inner membrane of the mitochondria. Within the inner mitochondrial membrane are also transport protein s that transport in a highly controlled manner metabolites across this membrane. The inner membrane of mitochondria IMM is similar in lipid composition to the membrane of bacteria . This phenomenon can be explained by the endosymbiont hypothesis of the origin of mitochondria as prokaryotes internalized by a eukaryotic host cell. See also Mitochondrial shuttle Translocase of the inner membrane External links http opm.phar.umich.edu localization.php?localization Mitochondrial 20inner 20membrane http www.med.uiuc.edu histo small atlas objects 1340.htm Mitochondrial enzymes Category Membrane biology biochemistry stub ca Membrana mitocondrial interna zh ... more details
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