Infobox Disease Name Mitochondrialdisease Image Ragged red fibres gtc very high mag.jpg Caption Micrograph showing ragged red fibres, a finding seen in mitochondrial diseases. Muscle biopsy . Gomori trichrome stain . DiseasesDB 28840 ICD9 ICD9 277.87 MeshID D028361 Mitochondrial diseases are a group ... to mitochondrialdisease Diabetes mellitus and deafness can also be found together for other reasons ... The effects of mitochondrialdisease can be quite varied. Since the distribution of the defective ... patterns, see Human mitochondrial genetics . Mitochondrialdisease may become clinically apparent ... with mitochondrialdisease into the eggs of women donors who were unaffected. ref cite news last ... DM title Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease ... have been proposed as a possible treatment for inherited mitochondrialdisease, and allotopic ... About 1 in 4,000 children in the United 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. Citation ... from mitochondrialdisease include Rocco Baldelli diagnosis later replaced by channelopathy ... ATP that powers most cell functions. Mitochondrial diseases are often caused by mutations to mitochondrial DNA that affect mitochondria function. Mitochondrial diseases take on unique characteristics ... 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 myopathies ... 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 usually ... short stature hearing loss lactic acidosis exercise intolerance MELAS Mitochondrial myopathy, encephalomyopathy ... affect the mitochondria , but are not associated with mitochondrial proteins. Symptoms Symptoms include ... more details
unencyclopedic 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 myopathies are a type of myopathy associated with mitochondrialdisease . On biopsy, the muscle tissue of patients with this disease category 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 activity 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 some hope for a treatment for this whole class of hereditary disease s with the use of an embryotic 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 Symptoms Symptoms of Mitochondrial myopathy 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 dysmotility weight loss Myoclonic epilepsy and ragged red fibers MERRF progressive myoclonic epilepsy clumps of diseased mitochondria accumulate ... mitochondrial myopathies References reflist Diseases of myoneural junction and muscle Mitochondrial diseases Category Myoneural junction and neuromuscular diseases Category Mitochondrial diseases ... 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 ... more details
of mtDNA to oxidative damage. Genetic illness See Mitochondrialdisease Mutations of mitochondrial ... diseaseMitochondrial DNA journal Mitochondrial Eve Cambridge Reference Sequence Mitochondrial rCRS ...Image Mitochondrial DNA en.svg thumb 300px right 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 extraction ..., Cook PR title The functional organization of mitochondrial genomes in human cells journal BMC Biol ... 1741 7007 2 9 ref Mitochondrial DNA mtDNA is the DNA located in organelles called mitochondrion ... cite journal author John JC, Facucho Oliveira J, Jiang Y, Kelly R, Salah R title Mitochondrial DNA ... month March pmid 20231166 doi 10.1093 humupd dmq002 url ref Origin Nuclear and mitochondrial DNA are thought ... Counting target molecules by exponential polymerase chain reaction, copy number of mitochondrial DNA ... transferred to the eukaryotic nucleus during evolution . Mitochondrial inheritance In most metazoans ... into an oocyte , may interfere with this. The fact that mitochondrial DNA is maternally inherited enables ... in humans by sequencing one or more of the hypervariable control region s HVR1 or HVR2 of the mitochondrial ... pmid 9180076 issue 5319 ref The concept of the Mitochondrial Eve is based on the same type of analysis ... of Mytilus mitochondrial DNA journal Science volume 251 pages 1488 1490 pmid 1672472 doi 10.1126 science.1672472 ..., Chigusa SI title Further observation of paternal transmission of Drosophila mitochondrial DNA by PCR ... Transfer of paternal mitochondrial DNA during fertilization of honeybee Apis mellifera L. eggs journal ... ref Evidence supports rare instances of male mitochondrial inheritance in some mammals as well. Specifically ... A, Wilson AC title Paternal inheritance of mitochondrial DNA in mice journal Nature volume ... of mitochondrial DNA in the sheep Ovis aries journal Heredity volume 93 issue 4 pages 399 403 ... 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 ...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 A 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 41 year 2006 pmid 16756509 doi 10.1146 annurev.biochem.75.103004.142747 url issn ref Function A variety ... mitochondrial membrane inner membranes of mitochondria and other eukaryotic organelles such as the peroxisome ... journal author Walker JE title The mitochondrial transporter family journal Curr. Opin. Struct. Biol ... cite journal author Kuan J, Saier Jr MH title Expansion of the mitochondrial carrier family journal ... title Site directed mutagenesis of the yeast mitochondrial ADP ATP translocator. Six arginines and one ... doi 10.1006 jmbi.1993.1233 ref ref name PUB00001675 cite journal author Palmieri F title Mitochondrial ... TA, Habermann B title PMP47, a peroxisomal homologue of mitochondrial solute carrier proteins journal ... Amongst the members of the mitochondrial carrier family that have been identified, it is the ADP ATP ... staging of ADP ATP carrier translocation across the outer mitochondrial membrane journal J. Biol ... Structural dynamics of the mitochondrial ADP ATP carrier revealed by molecular dynamics simulation ... proteins Mitochondrial enzymes ... 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 . 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 date June 2010 Reflist Category Genetic engineering ... 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
Expert subject Biology date November 2009 Mitochondrial decay is one major cause of aging , leading to the subsequent death in humans. The mitochondria are the power producing organelles found in every cell of every organ. Their primary function is to generate Adenosine triphosphate ATP through various energy cycles that involve nutrients and vitamins. ATP is needed for every movement, thought and action we make. Yet very little ATP can be stored in the body. Under normal conditions the mitochondria generate free radicals during the ATP production process and as a result subject themselves to a lot of free radical damage. As we age, the mitochondria become less efficient, fewer in number and larger. Accordingly, ATP production declines, and this may eventually lead to cell death. As organs cannot borrow energy from one another, the efficiency of each organ s mitochondria is essential to its repair processes and functions. If an organ s mitochondria fail, then so does that organ. Enhancement and protection of mitochondrial function and structure are therefore instrumental in preventing and slowing aging. Mitochondrial decay is a progressive disruption of mitochondrial structural integrity and functional ability with advancing age. It can cause impairment in cellular energy production and hence a decline in normal function, particularly in organs with high energy consumption such as the brain and the heart. Mitochondrial decay can also lead to an increase in free radical production and thus render a cell more prone to commit suicide programmed cell death or apoptosis . Some of the age related diseases, including cardiovascular and neurodegenerative disorders, have been found to involve mitochondrial dysfunction. The maintenance of a youthful mitochondrial functional ability and antioxidant capacity has become a trend in preventive health. Reference RK Lab http www.rk lab.com Category DNA Category Aging ... more details
of the inner mitochondrial membrane. The NADH and FADH sub 2 sub produced by the citric acid ... chain. The protons return to the mitochondrial matrix through the process of chemiosmosis through the protein ATP synthase . See also Matrix biology References Reflist Mitochondrial enzymes DEFAULTSORT Mitochondrial Matrix Category Cell anatomy ca Matriu mitocondrial cs Mitochondri ln matrix pl ... 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 MRCA most recent common ancestor . In other words, this was the woman ... it is generally passed from mother to offspring without recombination , all mitochondrial DNA mtDNA in every living person is directly descended from hers by definition. Mitochondrial Eve is the female ... thousands of years apart. Mitochondrial Eve is generally estimated to have lived around 200,000 ... humans were developing as a population distinct from other human sub species. Mitochondrial Eve lived ... the mitochondrial timescale of human evolution journal Trends Ecol. Evol. Amst. volume 24 issue 9 ..., the latter hypothesis is now the dominant one. Female and mitochondrial ancestry further Genetic genealogy matrilineal Mitochondrial DNA Human mitochondrial molecular clock File MatrilinealAncestor.PNG ... female, such as Mitochondrial Eve File Mitochondrial eve tree.gif thumb right 250px Simplified Human mitochondrial phylogeny Without a DNA sample, it is not possible to reconstruct the complete ..., parts of ancestral genomes are estimated by scientists. Mitochondrial DNA mtDNA and Y chromosome ... inheritance 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 ... terms clade s, and the common ancestors such as Mitochondrial Eve sit at branching points in this tree ... containing several haplogroups are called macro haplogroups . The mitochondrial clade which Mitochondrial Eve defines is the species species Homo sapiens Homo sapiens sapiens itself, or at least ... in genus species Pan Pan . According to current nomenclature, Mitochondrial Eve s haplogroup was within ... 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
for an abnormal condition affecting the body of an organism Disease Infobox television episode Title The Disease Image Image ST VOY The Disease.jpg 270px br Harry Kim becomes intimate with Varro scientist Tal Series Star Trek Voyager Season 5 Episode 17 Production 210 Airdate February 24, 1999 Writer Kenneth Biller br Michael Taylor screenwriter Michael Taylor Director David Livingston director David Livingston Guests Musetta Vander as Tal br Charles Rocket as Jippeq Prev Dark Frontier Next Course Oblivion Star Trek Voyager Course Oblivion Episode list List of Star Trek Voyager episodes The Disease is an 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 . http www.startrek.com startrek view series VOY episode 104851.html 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. Fractures along the hull created by the parasites begin to grow as the Varro ship begins to fall apart. Voyager ... say good bye to his recent love. External links memoryalpha article The Disease The Disease http ... Disease, The Category Star Trek Voyager episodes Category 1999 television episodes StarTrek ... 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 DEFAULTSORT Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Category Mitochondrial diseases Category Rare diseases Category Syndromes Category Autosomal recessive disorders genetic disorder stub pl Zesp MNGIE ... 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
for sustaining life. The mitochondrialdisease s are genetic disorder s carried specifically in mitochondrial ... father leads to all affected children Because mitochondrialdisease s diseases due to malfunction ... they are passed on from generation to generation can vary greatly depending on the disease. Mitochondrial ... disease coronary artery disease . Chromosomally mediated mtDNA replication errors Because mitochondrial ... from nuclear DNA. Mitochondrial diseases Mitochondrialdisease s range in severity from asymptomatic ..., Robert. 1997 The Spectrum of MitochondrialDisease. Exceptional Parent Magazine. Vol. 27, Issue ... United MitochondrialDisease Foundation . Pittsburgh, PA. dl November 2004 . Tamarin, Robert ... . Vladutiu, Georgirene D. 1997 Advances in MitochondrialDisease Research. Exceptional Parent Magazine ...Human mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria ... 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 inheritance is therefore ... material of a fertilized egg zygote derives from each parent. Eighty percent of mitochondrial DNA genetic code codes for functional mitochondrial proteins, and therefore most mitochondrial DNA mutations ... and organ cloning, and to treatments or possibly cures for many devastating muscular disorders. Mitochondrial ... determining the actual number is very difficult 10 protons to enter the mitochondrial matrix ... death or stress, which can both in turn lead to a number of diseases. Genome see Mitochondrial DNA Mitochondrial ... hosts about 3000 proteins, but only about 13 of them are coded on the mitochondrial DNA. Most of the 3000 ... or nucleic acid. Because several copies of the mitochondrial genome are carried by each mitochondrion 2 10 in humans , mitochondrial mutations can be inherited maternally by mtDNA mutations which ... 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
Mitochondrial permeability transition , or MPT , is an increase in the permeability of the mitochondria ... from opening of mitochondrial permeability transition pores , also known as the MPT pores or MPTP ... of the permeability transition pore can lead to mitochondrial swelling and cell death and plays ... in damage and death of neurons. ref Fiskum G. 2000. Mitochondrial participation in ischemic ... and Mazat JP. 1998. From calcium signaling to cell death two conformations for the mitochondrial permeability ... HWCIT Mitochondrial dysfunction is a primary event in glutamate neurotoxicity. Journal ...&sortspec relevance&resourcetype HWCIT Mitochondrial depolarization in glutamate stimulated neurons ... P. 2006. Mitochondrial permeability transition in cardiac cell injury and death. Cardiovascular ... alters mitochondrial permeability transition . American Journal of Physiology, Heart and Circulation ..., Bradham CA, Brenner DA, and Herman B. 1998. The mitochondrial permeability transition in cell death ..., Issues 1 2, Pages 177 196. PMID 9714796. review. ref MPT may also play a role in mitochondrial autophagy ... RT, Gross RA, and Sheu S S. 2002. Mitochondrial permeability transition and calcium dynamics in striatal ... Crompton M. 1999. http www.biochemj.org bj 341 0233 bj3410233.htm The mitochondrial permeability transition ... come together to form the pore, including adenine nucleotide translocase ANT , the mitochondrial inner ... membrane voltage dependent anion channel VDAC and cyclophilin D. ref name Fiskum Fiskum G. 2001. Mitochondrial ... from the mitochondrial matrix and preventing its joining the pore. ref name Sullivan Sullivan PG, Thompson ... Y. 2005 . Cyclophilin D dependent mitochondrial permeability transition regulates some necrotic ... the inside and outside of mitochondrial membranes known as permeability transition, or . ref ... cgi content full 279 48 50420 Cytochrome bc sub 1 sub regulates the mitochondrial permeability ... of GD3 ganglioside with mitochondria generates reactive oxygen species followed by mitochondrial permeability ... 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 2 oxo glutarate dehydrogenase Branched chain alpha keto acid dehydrogenase complex branched chain ... mitochondrial membrane . Correlation with non mitochondrial antigens Fifty seven percent ... with gluten sensitive enteropathy see coeliac disease , Gluten sensitive enteropathy associated ... 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 ... more details
Orphan date September 2010 Infobox Journal title Mitochondrial DNA editor Rob DeSalle discipline CellBiology Genetics language English abbreviation MDN publisher Informa Healthcare Country UK Frequency 6 issues per year History First published 1990 openaccess no website http www.informapharmascience.com mdn 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 research and discovery. It is published by Informa plc Informa Healthcare . Core Therapeutic Areas Coverage includes Structure and function Neurodegenerative disorders Ageing Current technologies Editor in Chief Rob DeSalle is the Editor in Chief of Mitochondrial DNA ref cite web url http www.informahealthcare.com page EditorialAdvisoryBoard?journalCode mdn title Editorial Board Members accessdate 2009 09 16 format work informhealthcare.com ref . Publication Format Mitochondrial DNA publishes 6 issues per year in simultaneous print and online editions. References reflist 2 External links http www.informahealthcare.com mdn Mitochondrial DNA homepage of Mitochondrial DNA Category Publications established in 1980 Category Genetics journals ... 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 ... 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 ... more details
protein Name mitochondrially encoded tRNA valine caption image width HGNCid 7500 Symbol MT TV AltSymbols MTTV EntrezGene 4577 OMIM RefSeq NC 001807 UniProt PDB ECnumber Chromosome MT Arm Band LocusSupplementaryData Mitochondrially encoded tRNA valine also known as MT TV is a transfer RNA which in humans is encoded by the mitochondrion mitochondrial MT TV gene . ref name pmid7219534 cite journal author Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG title Sequence and organization of the human mitochondrial genome journal Nature volume 290 issue 5806 pages 457 65 year 1981 month April pmid 7219534 doi 10.1038 290457a0 url ref MT TV is a small 69 nucleotide RNA human mitochondrial map position 1602 1670 that transfers the amino acid valine to a growing polypeptide chain at the ribosomal ribosome site of protein synthesis during translation genetics translation . References Reflist Mitochondrial enzymes genetics stub ... more details
enzyme Name mitochondrial protein transporting ATPase EC number 3.6.3.51 CAS number IUBMB EC number 3 6 3 51 GO code 0008566 image width caption In enzymology , a mitochondrial protein transporting ATPase EC number 3.6.3.51 is an enzyme that catalysis catalyzes the chemical reaction ATP H sub 2 sub O math rightleftharpoons math ADP phosphate Thus, the two substrate biochemistry substrates of this enzyme are adenosine triphosphate ATP and water H sub 2 sub O , whereas its two product chemistry products are adenosine diphosphate ADP and phosphate . This enzyme belongs to the family of hydrolase s, specifically those acting on acid anhydrides to catalyse transmembrane movement of substances. The systematic name of this enzyme class is ATP phosphohydrolase mitochondrial protein importing . References reflist 1 cite journal author Rassow J year 1997 title Multiple interactions of components mediating preprotein translocation across the inner mitochondrial membrane journal Embo. J. volume 16 pages 2205&ndash 16 pmid 9171336 doi 10.1093 emboj 16.9.2205 last2 Meijer first2 M last3 Maarse first3 AC last4 H nlinger first4 A last5 Dekker first5 PJ last6 Pfanner first6 N last7 Rassow first7 J issue 9 pmc 1169823 cite journal author Brunner M year 1995 title The MIM complex mediates preprotein translocation across the mitochondrial inner membrane and couples it to the mt Hsp70 ATP driving system journal Cell. volume 81 pages 1085&ndash 93 pmid 7600576 doi 10.1016 S0092 8674 05 80013 3 last2 Bauer first2 MF last3 Schneider first3 HC last4 Klaus first4 C last5 Dietmeier first5 K last6 Neupert first6 W last7 Brunner first7 M issue 7 cite journal author Voos W, Martin H, Krimmer T, Pfanner N year 1999 title Mechanisms of protein translocation into mitochondria journal Biochim. Biophys. Acta. volume 1422 pages 235&ndash 54 pmid 10548718 issue 3 Category EC 3.6.3 Category Enzymes of unknown structure hydrolase stub ... more details
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