KEGG   DISEASE: 複合型酸化的リン酸化異常(COXPD)Help
エントリ  
H00891                                                             

名称    
複合型酸化的リン酸化異常(COXPD);
Combined oxidative phosphorylation deficiency (COXPD)
概要    
複合型酸化的リン酸化異常(COXPD)は、ミトコンドリアの酸化的リン酸化システムの欠陥により起こる多様な症状を持つ疾患群である。リボソームタンパクの遺伝子(MRPS16 and MRPS22)の変異は、出生前に重症な小児病を引き起こすことが報告されている。また、COXPD患者のミトコンドリアの翻訳伸長因子の遺伝子(GFM1, TUFM, TSFM およびC12orf65)に変異があることも報告されている。
カテゴリ  
先天代謝異常症; ミトコンドリア病
階層分類  
ヒト疾患 [BR:jp08402]
 先天性代謝異常症
  ミトコンドリア病
   H00891  複合型酸化的リン酸化異常(COXPD)
BRITE hierarchy
病因遺伝子 
(COXPD1) GFM1 [HSA:85476] [KO:K02355]
(COXPD2) MRPS16 [HSA:51021] [KO:K02959]
(COXPD3) TSFM [HSA:10102] [KO:K02357]
(COXPD4) TUFM [HSA:7284] [KO:K02358]
(COXPD5) MRPS22 [HSA:56945] [KO:K17401]
(COXPD6) AIFM1 [HSA:9131] [KO:K04727]
(COXPD7) C12orf65 [HSA:91574]
(COXPD8) AARS2 [HSA:57505] [KO:K01872]
(COXPD9) MRPL3 [HSA:11222] [KO:K02906]
(COXPD10) MTO1 [HSA:25821] [KO:K03495]
(COXPD11) RMND1 [HSA:55005]
(COXPD12) EARS2 [HSA:124454] [KO:K01885]
(COXPD13) PNPT1 [HSA:87178] [KO:K00962]
(COXPD14) FARS2 [HSA:10667] [KO:K01889]
(COXPD15) MTFMT [HSA:123263] [KO:K00604]
(COXPD16) MRPL44 [HSA:65080] [KO:K17425]
(COXPD17) ELAC2 [HSA:60528] [KO:K00784]
(COXPD18) SFXN4 [HSA:119559]
(COXPD19) LYRM4 [HSA:57128]
(COXPD20) VARS2 [HSA:57176] [KO:K01873]
(COXPD21) TARS2 [HSA:80222] [KO:K01868]
(COXPD22) ATP5A1 [HSA:498] [KO:K02132]
(COXPD23) GTPBP3 [HSA:84705] [KO:K03650]
(COXPD24) NARS2 [HSA:79731] [KO:K01893]
(COXPD25) MARS2 [HSA:92935] [KO:K01874]
(COXPD26) TRMT5 [HSA:57570] [KO:K15429]
(COXPD27) CARS2 [HSA:79587] [KO:K01883]
(COXPD28) SLC25A26 [HSA:115286] [KO:K15111]
(COXPD29) TXN2 [HSA:25828] [KO:K03671]
(COXPD30) TRMT10C [HSA:54931] [KO:K17654]
(COXPD31) MIPEP [HSA:4285] [KO:K01410]
リンク   
文献    
  著者
Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmuller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R
  タイトル
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
  雑誌
Brain 134:183-95 (2011)
DOI:10.1093/brain/awq320
文献    
  著者
Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, Hershkovitz E, Elpeleg O
  タイトル
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
  雑誌
Ann Neurol 56:734-8 (2004)
DOI:10.1002/ana.20282
文献    
  著者
Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA
  タイトル
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
  雑誌
Am J Hum Genet 79:869-77 (2006)
DOI:10.1086/508434
文献    
  著者
Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M
  タイトル
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
  雑誌
Am J Hum Genet 80:44-58 (2007)
DOI:10.1086/510559
文献    
  著者
Saada A, Shaag A, Arnon S, Dolfin T, Miller C, Fuchs-Telem D, Lombes A, Elpeleg O
  タイトル
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
  雑誌
J Med Genet 44:784-6 (2007)
DOI:10.1136/jmg.2007.053116
文献    
  著者
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M
  タイトル
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
  雑誌
Am J Hum Genet 86:639-49 (2010)
DOI:10.1016/j.ajhg.2010.03.002
文献    
PMID:20598281 (gene)
  著者
Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA
  タイトル
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
  雑誌
Am J Hum Genet 87:115-22 (2010)
DOI:10.1016/j.ajhg.2010.06.004
文献    
PMID:22492562 (gene)
  著者
Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naude J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M
  タイトル
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
  雑誌
Brain 135:1387-94 (2012)
DOI:10.1093/brain/aws070
文献    
PMID:23084291 (gene)
  著者
Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rotig A
  タイトル
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
  雑誌
Am J Hum Genet 91:912-8 (2012)
DOI:10.1016/j.ajhg.2012.09.001
文献    
PMID:24161539 (gene)
  著者
Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM
  タイトル
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
  雑誌
Biochim Biophys Acta 1842:56-64 (2014)
DOI:10.1016/j.bbadis.2013.10.008
文献    
PMID:23499752 (gene)
  著者
Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R
  タイトル
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
  雑誌
Mitochondrion 13:743-8 (2013)
DOI:10.1016/j.mito.2013.03.002
文献    
PMID:25058219 (gene)
  著者
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF
  タイトル
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
  雑誌
JAMA 312:68-77 (2014)
DOI:10.1001/jama.2014.7184
文献    
PMID:23315540 (gene)
  著者
Carroll CJ, Isohanni P, Poyhonen R, Euro L, Richter U, Brilhante V, Gotz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A
  タイトル
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
  雑誌
J Med Genet 50:151-9 (2013)
DOI:10.1136/jmedgenet-2012-101375
文献    
PMID:23849775 (gene)
  著者
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H
  タイトル
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
  雑誌
Am J Hum Genet 93:211-23 (2013)
DOI:10.1016/j.ajhg.2013.06.006
文献    
PMID:24119684 (gene)
  著者
Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH
  タイトル
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
  雑誌
Am J Hum Genet 93:906-14 (2013)
DOI:10.1016/j.ajhg.2013.09.011
文献    
PMID:21786366 (gene)
  著者
Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rotig A
  タイトル
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
  雑誌
Hum Mutat 32:1225-31 (2011)
DOI:10.1002/humu.21562
文献    
PMID:23814038 (gene)
  著者
Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkuhler S, Thorburn DR, Compton AG
  タイトル
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
  雑誌
Hum Mol Genet 22:4460-73 (2013)
DOI:10.1093/hmg/ddt295
文献    
PMID:24827421 (gene)
  著者
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D
  タイトル
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
  雑誌
Hum Mutat 35:983-9 (2014)
DOI:10.1002/humu.22590
文献    
PMID:23596069 (gene)
  著者
Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK
  タイトル
Targeted exome sequencing of suspected mitochondrial disorders.
  雑誌
Neurology 80:1762-70 (2013)
DOI:10.1212/WNL.0b013e3182918c40
文献    
PMID:25434004 (gene)
  著者
Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Regal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rotig A, Haack TB, Minczuk M, Prokisch H
  タイトル
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
  雑誌
Am J Hum Genet 95:708-20 (2014)
DOI:10.1016/j.ajhg.2014.10.017
文献    
PMID:25629079 (gene)
  著者
Sofou K, Kollberg G, Holmstrom M, Davila M, Darin N, Gustafsson CM, Holme E, Oldfors A, Tulinius M, Asin-Cayuela J
  タイトル
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
  雑誌
Mol Genet Genomic Med 3:59-68 (2015)
DOI:10.1002/mgg3.115
文献    
PMID:25754315 (gene)
  著者
Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP, Rodenburg RJ, Houten SM, Schadt EE
  タイトル
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
  雑誌
Hum Mutat 36:587-92 (2015)
DOI:10.1002/humu.22781
文献    
PMID:26189817 (gene)
  著者
Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M
  タイトル
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
  雑誌
Am J Hum Genet 97:319-28 (2015)
DOI:10.1016/j.ajhg.2015.06.011
文献    
PMID:25787132 (gene)
  著者
Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH
  タイトル
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
  雑誌
J Med Genet 52:532-40 (2015)
DOI:10.1136/jmedgenet-2015-103049
文献    
PMID:26522469 (gene)
  著者
Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monne M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A
  タイトル
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
  雑誌
Am J Hum Genet 97:761-8 (2015)
DOI:10.1016/j.ajhg.2015.09.013
文献    
PMID:26626369 (gene)
  著者
Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F
  タイトル
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
  雑誌
Brain 139:346-54 (2016)
DOI:10.1093/brain/awv350
文献    
PMID:27132592 (gene)
  著者
Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rotig A, Taylor RW
  タイトル
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
  雑誌
Am J Hum Genet 98:993-1000 (2016)
DOI:10.1016/j.ajhg.2016.03.010
文献    
PMID:27799064 (gene)
  著者
Eldomery MK, Akdemir ZC, Vogtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR
  タイトル
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
  雑誌
Genome Med 8:106 (2016)
DOI:10.1186/s13073-016-0360-6

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