| H00891 | |
| H番号 | H00891 |
| 名称 | 複合型酸化的リン酸化異常 |
| 概要 | Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It has been reported that the mutations in the ribosomal protein gene (MRPS) cause severe antenatal-onset infantile disease. The patients with COXPD caused by mutations in mitochondrial translation elongation factor genes (GFM1, GFM2, TUFM, TSFM and C12orf65) have also been reported. |
| カテゴリ | 先天性代謝異常症, ミトコンドリア病 |
| ネットワーク | - |
| 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) MTRFR [HSA:91574] [KO:K23498] (COXPD8) AARS2 [HSA:57505] [KO:K01872] (COXPD9) MRPL3 [HSA:11222] [KO:K02906] (COXPD10) MTO1 [HSA:25821] [KO:K03495] (COXPD11) RMND1 [HSA:55005] [KO:K23499] (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] [KO:K23502] (COXPD19) LYRM4 [HSA:57128] [KO:K22069] (COXPD20) VARS2 [HSA:57176] [KO:K01873] (COXPD21) TARS2 [HSA:80222] [KO:K01868] (COXPD22) ATP5F1A [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] (COXPD32) MRPS34 [HSA:65993] [KO:K17412] (COXPD33) C1QBP [HSA:708] [KO:K15414] (COXPD34) MRPS7 [HSA:51081] [KO:K02992] (COXPD35) TRIT1 [HSA:54802] [KO:K00791] (COXPD36) MRPS2 [HSA:51116] [KO:K02967] (COXPD37) MICOS13 [HSA:125988] [KO:K24624] (COXPD38) MRPS14 [HSA:63931] [KO:K02954] (COXPD39) GFM2 [HSA:84340] [KO:K02355] (COXPD40) QRSL1 [HSA:55278] [KO:K02433] (COXPD41) GATB [HSA:5188] [KO:K02434] (COXPD42) GATC [HSA:283459] [KO:K02435] (COXPD43) TIMM22 [HSA:29928] [KO:K17790] (COXPD44) FASTKD2 [HSA:22868] [KO:K18190] (COXPD45) MRPL12 [HSA:6182] [KO:K02935] (COXPD46) MRPS23 [HSA:51649] [KO:K17402] (COXPD47) MRPS28 [HSA:28957] [KO:K17407] (COXPD48) NSUN3 [HSA:63899] [KO:K21969] (COXPD49) MIEF2 [HSA:125170] [KO:K23507] (COXPD50) MRPS25 [HSA:64432] [KO:K17404] (COXPD51) PTCD3 [HSA:55037] [KO:K17659] (COXPD52) NFS1 [HSA:9054] [KO:K04487] (COXPD53) C2orf69 [HSA:205327] (COXPD54) PRORP [HSA:9692] [KO:K17655] (COXPD55) POLRMT [HSA:5442] [KO:K10908] (COXPD56) TAMM41 [HSA:132001] [KO:K17807] (COXPD57) CRLS1 [HSA:54675] [KO:K08744] (COXPD58) TEFM [HSA:79736] [KO:K17658] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C53.2Y ICD-10: E88.8 MeSH: C563797 C566468 C566467 C565690 C567126 OMIM: 609060 610498 610505 610678 611719 300816 613559 614096 614582 614702 614922 614924 614932 614946 614947 615395 615440 615578 615595 615917 615918 616045 616198 616239 616430 616539 616672 616794 616811 616974 617228 617664 617713 617872 617873 617950 618329 618378 618397 618835 618838 618839 618851 618855 618951 618952 618958 619012 619024 619025 619057 619386 619423 619737 619743 620139 620167 620451 |
| 文献 | PMID:21169334 (COXPD1-4) 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 PMID:15505824 (COXPD2) 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 PMID:17033963 (COXPD3) 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 PMID:17160893 (COXPD4) 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 PMID:17873122 (COXPD5) 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 PMID:20362274 (COXPD6) 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 PMID:20598281 (COXPD7) 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 PMID:25058219 (COXPD8-17) 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 PMID:21786366 (COXPD9) 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 PMID:22492562 (COXPD12) 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 PMID:23084291 (COXPD13) 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 PMID:24161539 (COXPD14) 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 PMID:23499752 (COXPD15) 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 PMID:23315540 (COXPD16) 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 PMID:23849775 (COXPD17) 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 PMID:24119684 (COXPD18) 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 PMID:23814038 (COXPD19) 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 PMID:24827421 (COXPD20_21) 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 PMID:23596069 (COXPD22) 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 PMID:25434004 (COXPD23) 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 PMID:25629079 (COXPD24_25) 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 PMID:25754315 (COXPD25) 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 PMID:26189817 (COXPD26) 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 PMID:25787132 (COXPD27) 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 PMID:26522469 (COXPD28) 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 PMID:26626369 (COXPD29) 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 PMID:27132592 (COXPD30) 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 PMID:27799064 (COXPD31) 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 PMID:28777931 (COXPD32) 著者 Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rotig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR タイトル Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. 雑誌 Am J Hum Genet 101:239-254 (2017) DOI:10.1016/j.ajhg.2017.07.005 PMID:28942965 (COXPD33) 著者 Feichtinger RG, Olahova M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H タイトル Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 雑誌 Am J Hum Genet 101:525-538 (2017) DOI:10.1016/j.ajhg.2017.08.015 PMID:27485409 (COXPD37) 著者 Zeharia A, Friedman JR, Tobar A, Saada A, Konen O, Fellig Y, Shaag A, Nunnari J, Elpeleg O タイトル Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. 雑誌 Eur J Hum Genet 24:1778-1782 (2016) DOI:10.1038/ejhg.2016.83 PMID:30283131 (COXPD40_41_42) 著者 Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, Gonzalez C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernandez-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK タイトル Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 雑誌 Nat Commun 9:4065 (2018) DOI:10.1038/s41467-018-06250-w PMID:31039582 (COXPD50) 著者 Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A タイトル MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. 雑誌 Hum Mol Genet 28:2711-2719 (2019) DOI:10.1093/hmg/ddz093 PMID:30607703 (COXPD51) 著者 Borna NN, Kishita Y, Kohda M, Lim SC, Shimura M, Wu Y, Mogushi K, Yatsuka Y, Harashima H, Hisatomi Y, Fushimi T, Ichimoto K, Murayama K, Ohtake A, Okazaki Y タイトル Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. 雑誌 Neurogenetics 20:9-25 (2019) DOI:10.1007/s10048-018-0561-9 PMID:24498631 (COXPD52) 著者 Farhan SM, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C, Kronick JB, Ramsay DA, Rupar CA, Hegele RA タイトル Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency. 雑誌 Mol Genet Genomic Med 2:73-80 (2014) DOI:10.1002/mgg3.46 PMID:33945503 (COXPD53) 著者 Lausberg E, Giesselmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Hausler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F タイトル C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. 雑誌 J Clin Invest 131:143078 (2021) DOI:10.1172/JCI143078 PMID:34715011 (COXPD54) 著者 Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodriguez-Palmero A, Schluter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W, Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG タイトル Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. 雑誌 Am J Hum Genet 108:2195-2204 (2021) DOI:10.1016/j.ajhg.2021.10.002 PMID:33602924 (COXPD55) 著者 Olahova M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stranecky V, Hartmannova H, Bleyer AJ, McBride KL, Bowden SA, Korandova Z, Pecinova A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Ounap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mracek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW タイトル POLRMT mutations impair mitochondrial transcription causing neurological disease. 雑誌 Nat Commun 12:1135 (2021) DOI:10.1038/s41467-021-21279-0 PMID:35321494 (COXPD56) 著者 Thompson K, Bianchi L, Rastelli F, Piron-Prunier F, Ayciriex S, Besmond C, Hubert L, Barth M, Barbosa IA, Deshpande C, Chitre M, Mehta SG, Wever EJM, Marcorelles P, Donkervoort S, Saade D, Bonnemann CG, Chao KR, Cai C, Iannaccone ST, Dean AF, McFarland R, Vaz FM, Delahodde A, Taylor RW, Rotig A タイトル Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease. 雑誌 HGG Adv 3:100097 (2022) DOI:10.1016/j.xhgg.2022.100097 PMID:35147173 (COXPD57) 著者 Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA, Boycott KM, Geraghty MT, van Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A タイトル Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. 雑誌 Hum Mol Genet 31:3597-3612 (2022) DOI:10.1093/hmg/ddac040 PMID:36823193 (COXPD58) 著者 Van Haute L, O'Connor E, Diaz-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, Goel H, Helman G, Houlden H, Lenaers G, Mention K, Murphy D, Nandeesh B, Olimpio C, Powell CA, Preethish-Kumar V, Procaccio V, Rius R, Rebelo-Guiomar P, Simons C, Vengalil S, Zaki MS, Ziegler A, Thorburn DR, Stroud DA, Maroofian R, Christodoulou J, Gustafsson C, Nalini A, Lochmuller H, Minczuk M, Horvath R タイトル TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. 雑誌 Nat Commun 14:1009 (2023) DOI:10.1038/s41467-023-36277-7 |