| H00469 | |
| H番号 | H00469 |
| 名称 | ミトコンドリア DNA 枯渇症候群 |
| 概要 | Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Some genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation. |
| 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 | nt06504(H00469) Base excision repair |
| 病因遺伝子 | (MTDPS1) TYMP [HSA:1890] [KO:K00758] (MTDPS2) TK2 [HSA:7084] [KO:K00857] (MTDPS3) DGUOK [HSA:1716] [KO:K00904] (MTDPS4A/4B) POLG [HSA:5428] [KO:K02332] (MTDPS5) SUCLA2 [HSA:8803] [KO:K01900] (MTDPS6) MPV17 [HSA:4358] [KO:K13348] (MTDPS7) TWNK [HSA:56652] [KO:K17680] (MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808] (MTDPS9) SUCLG1 [HSA:8802] [KO:K01899] (MTDPS10) AGK [HSA:55750] [KO:K09881] (MTDPS11) MGME1 [HSA:92667] [KO:K19465] (MTDPS12) SLC25A4 [HSA:291] [KO:K05863] (MTDPS13) FBXL4 [HSA:26235] [KO:K10270] (MTDPS14) OPA1 [HSA:4976] [KO:K17079] (MTDPS15) TFAM [HSA:7019] [KO:K11830] (MTDPS16) POLG2 [HSA:11232] [KO:K02333] (MTDPS17) MRM2 [HSA:29960] [KO:K02427] (MTDPS18) SLC25A21 [HSA:89874] [KO:K15110] (MTDPS19) SLC25A10 [HSA:1468] [KO:K13577] (MTDPS20) LIG3 [HSA:3980] [KO:K10776] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | MNGIE type: MTDPS1, MTDPS4B, MTDPS8B, MTDPS20 Myopathic type: MTDPS2, MTDPS11 Hepatocerebral type: MTDPS3, MTDPS6, MTDPS7, MTDPS15 Encephalomyopathic: MTDPS5, MTDPS8A, MTDPS9, MTDP12, MTDP13 Alpers type: MTDPS4A |
| リンク | ICD-11: 5C53.20 ICD-10: E88.8 MeSH: D017237 OMIM: 603041 609560 251880 203700 613662 612073 256810 271245 612075 245400 221350 615084 615418 615471 616896 617156 618528 618567 618811 618972 619780 |
| 文献 | PMID:20444604 著者 Suomalainen A, Isohanni P タイトル Mitochondrial DNA depletion syndromes--many genes, common mechanisms. 雑誌 Neuromuscul Disord 20:429-37 (2010) DOI:10.1016/j.nmd.2010.03.017 PMID:21855607 著者 Saito K, Kimura N, Oda N, Shimomura H, Kumada T, Miyajima T, Murayama K, Tanaka M, Fujii T タイトル Pyruvate therapy for mitochondrial DNA depletion syndrome. 雑誌 Biochim Biophys Acta 1820:632-6 (2012) DOI:10.1016/j.bbagen.2011.08.006 PMID:9924029 (MTDPS1) 著者 Nishino I, Spinazzola A, Hirano M タイトル Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 雑誌 Science 283:689-92 (1999) DOI:10.1126/science.283.5402.689 PMID:11687801 (MTDPS2) 著者 Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O タイトル Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. 雑誌 Nat Genet 29:342-4 (2001) DOI:10.1038/ng751 PMID:11687800 (MTDPS3) 著者 Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N タイトル The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. 雑誌 Nat Genet 29:337-41 (2001) DOI:10.1038/ng746 PMID:15122711 (MTDPS4A) 著者 Naviaux RK, Nguyen KV タイトル POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 雑誌 Ann Neurol 55:706-12 (2004) DOI:10.1002/ana.20079 PMID:12825077 (MTDPS4B) 著者 Van Goethem G, Schwartz M, Lofgren A, Dermaut B, Van Broeckhoven C, Vissing J タイトル Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 雑誌 Eur J Hum Genet 11:547-9 (2003) DOI:10.1038/sj.ejhg.5201002 PMID:15877282 (MTDPS5) 著者 Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A タイトル Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. 雑誌 Am J Hum Genet 76:1081-6 (2005) DOI:10.1086/430843 PMID:16582910 (MTDPS6) 著者 Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rotig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M タイトル MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. 雑誌 Nat Genet 38:570-5 (2006) DOI:10.1038/ng1765 PMID:16135556 (MTDPS7) 著者 Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L タイトル Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. 雑誌 Hum Mol Genet 14:2981-90 (2005) DOI:10.1093/hmg/ddi328 PMID:17486094 (MTDPS8A) 著者 Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A タイトル Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 雑誌 Nat Genet 39:776-80 (2007) DOI:10.1038/ng2040 PMID:19667227 (MTDPS8B) 著者 Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M タイトル Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. 雑誌 Arch Neurol 66:1028-32 (2009) DOI:10.1001/archneurol.2009.139 PMID:17668387 (MTDPS9) 著者 Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F タイトル Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. 雑誌 Am J Hum Genet 81:383-7 (2007) DOI:10.1086/519222 PMID:22284826 (MTDPS10) 著者 Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H タイトル Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. 雑誌 Am J Hum Genet 90:314-20 (2012) DOI:10.1016/j.ajhg.2011.12.005 PMID:23313956 (MTDPS11) 著者 Kornblum C, Nicholls TJ, Haack TB, Scholer S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H タイトル Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. 雑誌 Nat Genet 45:214-9 (2013) DOI:10.1038/ng.2501 PMID:16155110 (MTDPS12) 著者 Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M タイトル Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. 雑誌 Hum Mol Genet 14:3079-88 (2005) DOI:10.1093/hmg/ddi341 PMID:23993193 (MTDPS13) 著者 Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW タイトル Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 雑誌 Am J Hum Genet 93:471-81 (2013) DOI:10.1016/j.ajhg.2013.07.017 PMID:26561570 (MTDPS14) 著者 Spiegel R, Saada A, Flannery PJ, Burte F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P タイトル Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. 雑誌 J Med Genet 53:127-31 (2016) DOI:10.1136/jmedgenet-2015-103361 PMID:27448789 (MTDPS15) 著者 Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE タイトル Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. 雑誌 Mol Genet Metab 119:91-9 (2016) DOI:10.1016/j.ymgme.2016.07.001 PMID:30157269 (MTDPS16) 著者 Hoff KE, DeBalsi KL, Sanchez-Quintero MJ, Longley MJ, Hirano M, Naini AB, Copeland WC タイトル Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. 雑誌 PLoS One 13:e0203198 (2018) DOI:10.1371/journal.pone.0203198 PMID:28973171 (MTDPS17) 著者 Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M タイトル Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. 雑誌 Hum Mol Genet 26:4257-4266 (2017) DOI:10.1093/hmg/ddx314 PMID:29517768 (MTDPS18) 著者 Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R タイトル Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. 雑誌 Genet Med 20:1224-1235 (2018) DOI:10.1038/gim.2017.251 PMID:29211846 (MTDPS19) 著者 Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A タイトル SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 雑誌 Hum Mol Genet 27:499-504 (2018) DOI:10.1093/hmg/ddx419 PMID:33855352 (MTDPS20) 著者 Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R タイトル Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. 雑誌 Brain 144:1451-1466 (2021) DOI:10.1093/brain/awab056 |