| H01368 | |
| H番号 | H01368 |
| 名称 | チトクロムc酸化酵素欠損症; ミトコンドリア複合体 IV 欠損症 (MT-C4D) |
| 概要 | Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex IV). Since COX is encoded by nuclear and mitochondrial genes, COX deficiency can be inherited in either an autosomal recessive or a maternal pattern. Patients can present with a number of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and Leber hereditary optic neuropathy. |
| 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 | nt06529(H01368) Thermogenesis |
| 病因遺伝子 | (MC4DN1) SURF1 [HSA:6834] [KO:K14998] (MC4DN2) SCO2 [HSA:9997] [KO:K23755] (MC4DN3) COX10 [HSA:1352] [KO:K02257] (MC4DN4) SCO1 [HSA:6341] [KO:K07152] (MC4DN5) LRPPRC [HSA:10128] [KO:K17964] (MC4DN6) COX15 [HSA:1355] [KO:K02259] (MC4DN7) COX6B1 [HSA:1340] [KO:K02267] (MC4DN8) TACO1 [HSA:51204] [KO:K18189] (MC4DN9) COA5 [HSA:493753] [KO:K18178] (MC4DN10) COX14 [HSA:84987] [KO:K18181] (MC4DN11) COX20 [HSA:116228] [KO:K18184] (MC4DN12) PET100 [HSA:100131801] [KO:K18186] (MC4DN13) COA6 [HSA:388753] [KO:K18179] (MC4DN14) COA3 [HSA:28958] [KO:K18175] (MC4DN15) COX8A [HSA:1351] [KO:K02273] (MC4DN16) COX4I1 [HSA:1327] [KO:K02263] (MC4DN17) COA8 [HSA:84334] [KO:K23506] (MC4DN18) COX6A2 [HSA:1339] [KO:K02266] (MC4DN19) PET117 [HSA:100303755] [KO:K18188] (MC4DN20) COX5A [HSA:9377] [KO:K02264] (MC4DN21) NDUFA4 [HSA:4697] [KO:K03948] (MC4DN22) COX16 [HSA:51241] [KO:K18182] (MC4DN23) COX11 [HSA:1353] [KO:K02258] (COXPD44) FASTKD2 [HSA:22868] [KO:K18190] (MT-C4D) COX1 [HSA:4512] [KO:K02256] (MT-C4D) COX2 [HSA:4513] [KO:K02261] (MT-C4D) COX3 [HSA:4514] [KO:K02262] |
| 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: G71.3 MeSH: D030401 OMIM: 604377 619046 619048 220110 220111 615119 619051 619052 616500 619053 619054 619055 616501 619058 619059 619060 619061 619062 619063 619064 619065 618855 619355 620275 |
| 文献 | PMID:11579424 著者 Shoubridge EA タイトル Cytochrome c oxidase deficiency. 雑誌 Am J Med Genet 106:46-52 (2001) DOI:10.1002/ajmg.1378 PMID:9843204 (SURF1) 著者 Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA タイトル SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 雑誌 Nat Genet 20:337-43 (1998) DOI:10.1038/3804 PMID:10545952 (SCO2) 著者 Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA タイトル Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 雑誌 Nat Genet 23:333-7 (1999) DOI:10.1038/15513 PMID:10767350 (COX10) 著者 Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A タイトル A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. 雑誌 Hum Mol Genet 9:1245-9 (2000) DOI:10.1093/hmg/9.8.1245 PMID:11013136 (SCO1) 著者 Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A タイトル Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 雑誌 Am J Hum Genet 67:1104-9 (2000) DOI:10.1016/S0002-9297(07)62940-1 PMID:12529507 (LRPPRC) 著者 Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES タイトル Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. 雑誌 Proc Natl Acad Sci U S A 100:605-10 (2003) DOI:10.1073/pnas.242716699 PMID:21412973 (COX15) 著者 Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD タイトル Infantile cardioencephalopathy due to a COX15 gene defect: report and review. 雑誌 Am J Med Genet A 155A:840-4 (2011) DOI:10.1002/ajmg.a.33881 PMID:18499082 (COX6B1) 著者 Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M タイトル Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. 雑誌 Am J Hum Genet 82:1281-9 (2008) DOI:10.1016/j.ajhg.2008.05.002 PMID:19503089 (TACO1) 著者 Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA タイトル Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 雑誌 Nat Genet 41:833-7 (2009) DOI:10.1038/ng.390 PMID:21457908 (COA5) 著者 Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ タイトル A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. 雑誌 Am J Hum Genet 88:488-93 (2011) DOI:10.1016/j.ajhg.2011.03.002 PMID:22243966 (COX14) 著者 Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Aure K, Rotig A, Lombes A, Shoubridge EA タイトル Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. 雑誌 Am J Hum Genet 90:142-51 (2012) DOI:10.1016/j.ajhg.2011.11.027 PMID:23125284 (COX20) 著者 Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP タイトル A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. 雑誌 Hum Mol Genet 22:656-67 (2013) DOI:10.1093/hmg/dds473 PMID:24462369 (PET100) 著者 Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR タイトル A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 雑誌 Am J Hum Genet 94:209-22 (2014) DOI:10.1016/j.ajhg.2013.12.015 PMID:25339201 (COA6) 著者 Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ タイトル Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. 雑誌 Hum Mutat 36:34-8 (2015) DOI:10.1002/humu.22715 PMID:25604084 (COA3) 著者 Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jonson L, Duno M, Wibrand F, Shoubridge EA, Vissing J タイトル Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. 雑誌 J Med Genet 52:203-7 (2015) DOI:10.1136/jmedgenet-2014-102914 PMID:26685157 (COX8A) 著者 Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stuve B, Waltz S, Hattingen E, Thiele H, Nurnberg P, Rub C, Voos W, Kopatz J, Neumann H, Kunz WS タイトル Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. 雑誌 Brain 139:338-45 (2016) DOI:10.1093/brain/awv357 PMID:28766551 (COX4I1) 著者 Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, Elpeleg O, Saada A タイトル Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. 雑誌 Eur J Hum Genet 25:1142-1146 (2017) DOI:10.1038/ejhg.2017.112 PMID:25175347 (COA8) 著者 Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M タイトル Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. 雑誌 Am J Hum Genet 95:315-25 (2014) DOI:10.1016/j.ajhg.2014.08.003 PMID:31155743 (COX6A2) 著者 Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I タイトル COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. 雑誌 Ann Neurol 86:193-202 (2019) DOI:10.1002/ana.25517 PMID:28386624 (PET117) 著者 Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT タイトル Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. 雑誌 Hum Genet 136:759-769 (2017) DOI:10.1007/s00439-017-1794-7 PMID:28247525 (COX5A) 著者 Baertling F, Al-Murshedi F, Sanchez-Caballero L, Al-Senaidi K, Joshi NP, Venselaar H, van den Brand MA, Nijtmans LG, Rodenburg RJ タイトル Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive. 雑誌 Hum Mutat 38:692-703 (2017) DOI:10.1002/humu.23210 PMID:23746447 (NDUFA4) 著者 Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG タイトル NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. 雑誌 Cell Rep 3:1795-805 (2013) DOI:10.1016/j.celrep.2013.05.005 PMID:33169484 (COX16) 著者 Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT タイトル A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. 雑誌 Hum Mutat 42:135-141 (2021) DOI:10.1002/humu.24137 PMID:36030551 (COX11) 著者 Rius R, Bennett NK, Bhattacharya K, Riley LG, Yuksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J タイトル Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy. 雑誌 Hum Mutat 43:1970-1978 (2022) DOI:10.1002/humu.24453 PMID:18771761 (FASTKD2) 著者 Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M タイトル FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. 雑誌 Am J Hum Genet 83:415-23 (2008) DOI:10.1016/j.ajhg.2008.08.009 PMID:10441567 (COX1) 著者 Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, Shanske S, Fu J, Sue CM, Angelini C, DiMauro S, Manfredi G タイトル A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. 雑誌 Am J Hum Genet 65:611-20 (1999) DOI:10.1086/302546 PMID:10205264 (COX2) 著者 Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM タイトル An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. 雑誌 Am J Hum Genet 64:1330-9 (1999) DOI:10.1086/302361 PMID:8630495 (COX3) 著者 Keightley JA, Hoffbuhr KC, Burton MD, Salas VM, Johnston WS, Penn AM, Buist NR, Kennaway NG タイトル A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. 雑誌 Nat Genet 12:410-6 (1996) DOI:10.1038/ng0496-410 |