Refimprove date January 2008 Infobox Disease Name Mitochondrialtrifunctionalproteindeficiency Image ... 1284 MeshID Mitochondrialtrifunctionalproteindeficiency is an autosomal recessive fatty acid oxidation ... Image autorecessive.svg thumb right Mitochondrialtrifunctionalproteindeficiency has an Recessive ... mitochondrialtrifunctionalproteindeficiency. These genes each provide instructions for making part of an enzyme complex called mitochondrialtrifunctionalprotein. This enzyme complex functions in mitochondria, the energy producing centers within cells. As the name suggests, mitochondrialtrifunctionalprotein contains three enzymes that each perform a different function. This enzyme complex ... in the HADHA or HADHB genes that cause mitochondrialtrifunctionalproteindeficiency disrupt all three ..., heart, and muscles. This abnormal buildup causes the other signs and symptoms of mitochondrialtrifunctionalproteindeficiency. Pathophysiology The mitochondrialtrifunctionalprotein, composed ... and mortality. Epidemiology Mitochondrialtrifunctionalproteindeficiency is a rare disorder its ... long chain fatty acids. Signs and symptoms Signs and symptoms of mitochondrialtrifunctionalproteindeficiency may begin during infancy or later in life. Features that occur during infancy include feeding ... activities. Trifunctionalproteindeficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctionalproteindeficiency usually results in sudden unexplained infant ... trifunctionalproteindeficiency can be triggered by periods of fasting or by illnesses such as viral ... children with deficiency of LCHAD or complete deficiency of the trifunctionalprotein had been reported ..., breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrialtrifunctionalproteindeficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle ... deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis ... 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
thrombosis. Protein S deficiency is the underlying cause of a small proportion of cases of disseminated ... Protein S Deficiency And Thrombophilia at proteinsdeficiency.com http www.med.uiuc.edu hematology PtProtS.htm Protein S Deficiency University of Illinois Articles cite journal author ten Kate ... PROS1 c.1113T GG frameshift mutation in a family with mixed type I type III protein S deficiency ... 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
enzyme Name mitochondrialprotein 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 mitochondrialprotein 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 mitochondrialprotein 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
PBB geneid 2618 Trifunctional purine biosynthetic protein adenosine 3 is an enzyme that in humans is encoded by the GART gene . ref name pmid2050105 cite journal author Gnirke A, Barnes TS, Patterson D, Schild D, Featherstone T, Olson MV title Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes journal EMBO J. volume 10 issue 7 pages 1629 34 year 1991 month July pmid 2050105 pmc 452831 doi url issn ref This protein is a trifunctional polypeptide. It has phosphoribosylamine glycine ligase phosphoribosylglycinamide formyltransferase EC 6.3.4.13 , AIR synthetase FGAM cyclase phosphoribosylglycinamide synthetase EC 6.3.3.1 , phosphoribosylaminoimidazole synthetase EC 2.1.2.2 activity which is required for de novo purine biosynthesis. References Reflist Further reading refbegin 2 cite journal author Hattori M, Fujiyama A, Taylor TD, et al. title The DNA sequence of human chromosome 21. journal Nature volume 405 issue 6784 pages 311 9 year 2000 pmid 10830953 doi 10.1038 35012518 cite journal author Banerjee D, Nandagopal K title Potential interaction between the GARS AIRS GART Gene and CP2 LBP 1c LSF transcription factor in Down syndrome related Alzheimer disease. journal Cell. Mol. Neurobiol. volume 27 issue 8 pages 1117 26 year 2007 pmid 17902044 doi 10.1007 s10571 007 9217 2 cite journal author Dahms TE, Sainz G, Giroux EL, et al. title The apo and ternary complex structures of a chemotherapeutic target human glycinamide ribonucleotide transformylase. journal Biochemistry volume 44 issue 29 pages 9841 50 year 2005 pmid 16026156 doi 10.1021 bi050307g cite journal author Kimura K, Wakamatsu A, Suzuki Y, et al. title Diversification of transcriptional modulation large scale identification and characterization of putative alternative promoters ... proteinprotein interactions by mass spectrometry. journal Mol. Syst. Biol. volume 3 issue pages 89 ... for a tri functional enzyme protein involved in de novo purine biosynthesis. journal Mol. Biotechnol ... more details
Infobox Disease Name Protein C deficiency Image Caption DiseasesDB 10807 ICD10 ICD9 ICD9 289.81 ICDO OMIM 176860 MedlinePlus eMedicineSubj med eMedicineTopic 1923 MeshID D020151 Protein C deficiency is a rare genetic trait that predisposes to thrombosis thrombotic disease . It was first described in 1981 ... C title Deficiency of protein C in congenital thrombotic disease journal J. Clin. Invest. volume 68 ... belongs to a group of genetic disorders known as thrombophilia s. The prevalence of protein C deficiency has been estimated to about 0.2 to 0.5 of the general population. Protein C deficiency is associated ... types of protein C mutations that lead to protein C deficiency ref name pmid16968541 Type I Quantitative defects of protein C low production or short protein half life Type II Qualitative defects, in which ..., factors V VIII and others have been described. The majority of people with protein C deficiency ... sixteen cases of homozygous protein C deficiency had been described two abnormal copies of the gene, leading to absence of functioning protein C in the bloodstream . This may manifest itself as purpura ... who develop a venous clot regardless of underlying cause. ref Goldenberg NA, Manco Johnson MJ. Protein C deficiency. Haemophilia. 2008 Nov 14 6 1214 21 ref Studies have demonstrated an increased risk of recurrent venous thromboembolic events in patients with protein C deficiency. Therefore, long term ... Johnson MJ. Protein C deficiency. Haemophilia. 2008 Nov 14 6 1214 21 ref Homozygous protein C defect constitutes a potentially life threatening disease, and warrants the use of supplemental protein C concentrates. fact date April 2008 Liver transplant may be considered curative for homozygous protein C deficiency. ref Pediatr Transplant. 2009 Mar 13 2 251 4. Epub 2008 May 11. Long term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation ... 1 15 pmc 1592479 PMC 1592479 ref Pathophysiology The main function of protein C is its anticoagulant ... more details
Multiple issues cleanup May 2007 context October 2009 Infobox Disease Name D bifunctional proteindeficiency ... MeshID D Bifunctional proteindeficiency officially called 17 hydroxysteroid dehydrogenase ... proteindeficiency. journal Molecular and Cellular Endocrinology issue 2001 pages 61 70 ref , often ... enzymes their relationship of D bifunctional proteindeficiency and Zellweger syndrome journal Brain ..., A. Fois title D Bifunctional ProteinDeficiency Associated with Drug Resistant Infantile Spasms journal ... proteindeficiency include hypotonia, facial and skull dysmorphism , neonatal seizures, and neuronal ... proteindeficiency journal Human molecular genetics publisher Oxford University Press year 1999 pages ... and kidney. D BP deficiency is the most severe peroxisomal disorder ref name ref 5 cite journal .... Classification DBP deficiency can be divided into three types ref name ref 6 cite journal author ..., T. Glumoff title Mutational Spectrum of D bifunctional protein Defiency and Structure Based ... type I, characterized by a deficiency in both the hydratase and dehydrogenase units of D BP type II, in which only the hydratase unit is non functional type III, with only a deficiency in the dehydrogenase ... cause of these variations of D BP deficiency. Other amino acid changes were seen to alter the dimerization of the protein, leading to improper folding. Many mutations have been found in the gene coding ... homozygous for a missense mutation 616S . ref name ref 6 D BP Protein The D bifunctional protein ... , central hydratase domain, and the C terminal sterol carrier protein 2 SDR ref name ref 5 . The DBP protein 79kDa also known as multifunctional protein 2 , multifunctional enzyme 2 , or D peroxisomal ... and their derivatives . A non functional D BP protein results in the abnormal accumulation of long chain fatty acids and bile acid intermediates. The D BP protein contains a peroxisomal targeting .... Inside the peroxisomes, the D BP protein is partially cleaved exclusively between the SDR and hydratase ... more details
File Catumaxomab mechanism.svg thumb 400px The mechanism of action of a trifunctional antibody, exemplified by catumaxomab A trifunctional antibody is a monoclonal antibody with binding sites for two different antigens, typically CD3 immunology CD3 and a tumor antigen , making it a type of bispecific monoclonal antibody . In addition, its immunoglobulin heavy chain heavy chains can bind to an Fc receptor like other antibodies. The net effect is that this type of drug links T cell s via CD3 and macrophage s, natural killer cell s or other Fc receptor expressing cells to the tumor cells, leading to their destruction. ref cite journal last1 Lordick first1 F last2 Ott first2 K last3 Weitz first3 J last4 J ger first4 D title The evolving role of catumaxomab in gastric cancer journal Expert opinion on biological therapy volume 8 issue 9 pages 1407 15 year 2008 pmid 18694358 doi 10.1517 14712598.8.9.1407 ref ref cite journal last1 Revill first1 P. last2 Mealy first2 N. last3 Bozzo first3 J. title Catumaxomab journal Drugs of the Future volume 33 pages 385 year 2008 doi 10.1358 dof.2008.033.05.1204087 ref Examples include catumaxomab EpCAM CD3 and ertumaxomab HER2 neu CD3 , both drugs against various types of cancer. ref http www.fresenius.se internet fag com faginpub.nsf Content P Info2004 ... History Trifunctional antibodies were the first type of bispecific monoclonal antibodies to be produced ... system usually produces human anti mouse antibodies , which makes trifunctional antibodies unsuitable ... and vomiting. ref name Weiner Despite these problems, trifunctional antibodies can be suitable if only ... on the only, of these antibodies in clinical use. Another way of overcoming the problems of trifunctional ... , which produce hybrid trifunctional antibody as well as pure mouse and pure rat antibody. The trifunctional antibody is extracted chromatographic ally with protein A . File Quadroma antibodies.svg ... on the right, two are not hybridised, and the remaining rightmost is the desired trifunctional ... more details
Image Three kings or three gods.jpg thumb right This part of a 12th century Swedish tapestry has been interpreted to show, from left to right, the one eyed Odin , the hammer wielding Thor and Freyr holding up an ear of corn. Terje Leiren believes this Triple deities grouping corresponds closely to the trifunctional division Odin as the patron of priests and magicians, Thor of warriors, and Freyr of fertility and farming. ref Leiren, Terje I. 1999 . From Pagan to Christian The Story in the 12th Century Tapestry of the Skog Church . Published online http faculty.washington.edu leiren vikings2.html ref The Trifunctional hypothesis , forwarded by French people French mythography mythographer Georges Dum zil from 1929, postulates an id ologie tripartite tripartite ideology in prehistoric Proto Indo European society , reflected in the existence of classes or castes, those of clergy priests , warrior class warriors , and commoners farmers or pastoralists , corresponding to the three functions of the sacred sacral , the war martial and the economic , respectively and was first published in 1929 in the book Flamen Brahman ref name Flamen Brahman , and later in Mitra Varuna ref name Mitra Varuna . ref According to Jean Boissel, the first description of Indo European trifunctionalism was by Gobineau, not by Dum zil. Bruce Lincoln Lincoln , 1999, p. 268, cited below . ref Three way division Georges Dum zil Dum zil divided the Proto Indo European society Proto Indo European into three categories sovereignty , military , and agriculture productivity . He further subdivided sovereignty into two distinct and complementary sub parts. One part was formal, juridical, and priestly, but rooted in this world. The other was powerful, unpredictable, and also priestly, but rooted in the other , the supernatural and spiritual world. The second main division was connected with the use of force, the military , and war . Finally, there was a third group, ruled by the other two, whose role ... more details
Wiktionary A deficiency is a lack of something. Example There is a deficiency of vitamin D in his diet In mathematics, a deficient number is a number n for which n 2 n . In medicine there are a variety of nutrient deficiencies Avitaminosis is a deficiency of vitamins. Boron deficiency medicine Chromium deficiency Iron deficiency medicine Iodine deficiency Magnesium deficiency medicine Micronutrient deficiency In construction , a deficiency is an item, or condition that is considered sub standard, or below minimum expectations, such as those mandated by either drawing s or specification s or the building code or the fire code, and or any combination of the foregoing. Deficiencies are routinely discussed and dealt with in construction site meeting s. In genetics, a genetic deletion is also called a Deficiency. In real estate law , a deficiency in the ability to pay off a debt is called a deficiency judgment or deficiency judgement. disambig ar de Mangel es Deficiencia nl Defici ntie no Mangel ... 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 mitochondrialprotein 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
Adenosine diphosphate ADP , Adenosine triphosphate ATP carrier protein ADP ATP translocase 2 oxoglutarate malate carrier protein phosphate carrier protein tricarboxylate transport protein or citrate 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 ... 206 A mitochondrial carriers are proteins from the solute carrier family which transfers molecules ... and function of the mitochondrial ADP ATP carrier journal Annu. Rev. Biochem. volume 75 issue pages ... of substrate carrier protein s, which are involved in energy transfer, have been found in the inner mitochondrial membrane inner membranes of mitochondria and other eukaryotic organelles such as the peroxisome ... of the uncoupling protein of brown adipose tissue journal Trends Biochem. Sci. volume 15 issue ... 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 ... protein that is synthesised lacking a cleavable presequence, but instead contains internal targeting ... 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 ... 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
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 ... 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 ... 59Fe in cells when the protein pores are unfolded by mutation. journal J. Biol. Chem. volume 283 ... 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
2 accessdate 2010 08 09 ref Genes Transport chain The mitochondrial genome contains 13 protein coding ...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 ... Steinborn R, Zakhartchenko V, Jelyazkov J, et al. title Composition of parental mitochondrial DNA in cloned ... 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 ... 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 Mitochondrial disease 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 ... 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 ... called a mitochondrial myopathy . Classification In addition to the mitochondrial myopathies ... to mitochondrial disease Diabetes mellitus and deafness can also be found together for other reasons ... 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 ... 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 mutation is modulated ... system diseases. Mitochondrial diseases as a rule are worse when the defective mitochondria are present ... J title Hematological manifestations of primary mitochondrial disorders journal Acta Haematol. volume ... more energy than most other cells in the body. Although mitochondrial diseases vary greatly in presentation ... 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 , or other environmental causes see Medical Subject Headings MeSH . Mitochondrial DNA inheritance behaves differently from ... cells , and one copy is inherited from the father and the other from the mother. Mitochondrial DNA, however, is strictly inherited from the mother and each mitochondrial organelle typically contains ... 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
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
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
occurring. Pathology Mutations in the PROS1 gene can lead to Protein S deficiency ... of, and molecular defects underlying, inherited protein S deficiency in the general population ... Prior P, Hurtado B, Sala N title Molecular basis of protein S deficiency journal Thromb. Haemost ... B, Sala N title Molecular basis of protein S deficiency journal Thromb. Haemost. volume 98 issue ... Hereditary protein S deficiency in young adults with arterial occlusive disease journal Thromb. Haemost ... R, et al. title Familial protein S deficiency with a variant protein S molecule in plasma and platelets ... protein S deficiency clinical manifestations journal Ann. Intern. Med. volume 106 issue 5 pages 677 ...PBB geneid 5627 Protein S is a vitamin K dependent plasma glycoprotein synthesized in the endothelium. In the circulation, Protein S exists in two forms a free form and a complex form bound to complement system complement protein C4b. In humans, protein S is encoded by the PROS1 gene . ref name pmid2944113 ... J, Wydro R title Isolation and sequence of the cDNA for human protein S, a regulator of blood coagulation ... in Seattle, Wash, first discovered protein S and arbitrarily named it after the city of its ... title A comparison of human prothrombin, factor IX Christmas factor , factor X Stuart factor , and protein ... of protein S, a gamma carboxyglutamic acid containing protein from bovine and human plasma ... bi00572a026 ref Function The best characterized function of Protein S is its role in the anti coagulation pathway, where it functions as a cofactor to Protein C in the inactivation of factor V Factors ... journal author Castoldi E, Hackeng TM title Regulation of coagulation by protein S journal Curr. Opin ... url ref Protein S can bind to negatively charged phospholipids via the carboxylated Gla domain GLA domain . This property allows Protein S to function in the removal of cells which are undergoing ... membrane. These negatively charged phospholipids are recognized by phagocytes such as macrophages . Protein ... more details
Protein A is a 40 60 Atomic mass unit kDa MSCRAMM surface protein originally found in the cell wall of the bacteria Staphylococcus aureus . It is encoded by the spa gene and its regulation is controlled by DNA topology, cellular osmolarity, and a two component regulatory system two component system called ArlS ArlR. It has found use in biochemical research because of its ability to bind immunoglobulins . It binds proteins from many of mammalian species, most notably IgG s. It binds with the Fc region ... antibody function on their surface which disrupts opsonization and phagocytosis . Protein A antibody .... Protein A binds with moderate affinity to human IgM , IgA and IgE as well as to mouse IgG3 and IgG1 .... Other antibody binding proteins In addition to Protein A, other immunoglobulin binding bacterial proteins such as Protein G , Protein A G and Protein L are all commonly used to purify, immobilize or detect immunoglobulins. Role in pathogenesis As a pathogen Staphylococcus aureus utilizes Protein .... Protein A helps inhibit phagocytic engulfment and acts as an immunological disguise. Mutants of S. aureus lacking protein A are more efficiently phagocytosed in vitro, and mutants in infection models ... 197 1125 1139. ref Research Recombinant Staphylococcal Protein A is often produced in E. coli for use in immunology and other biological research. One recombinant form of Protein A is called MabSelect ... 18114994AE.pdf ref . Protein A is often coupled to other molecules such as a fluorescent dye , enzyme ... widely utilized coupled to magnetic, latex and agarose beads. Protein A is often immobilized onto a solid support and used as reliable method for purifying total IgG from crude protein mixtures ... of antibodies. Immunoprecipitation studies with protein A conjugated to beads are also commonly used to purify proteins or protein complexes indirectly through antibodies against the protein or protein complex of interest. References reflist Category Proteins Category Staphylococcaceae de Protein ... more details
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