| H01369 | |
| H番号 | H01369 |
| 名称 | ATP合成酵素欠損症 |
| 概要 | ATP synthase deficiency is mitochondrial disease caused by inborn defects in the mitochondrial F1Fo-ATP synthase (respiratory chain complex V). Many patients die within a few months or years. It has been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ATPAF2 and TMEM70. Recently, mutations have been found in a nuclear encoded structural complex V subunit, ATP5E and ATP5A1. |
| 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(H01369) Thermogenesis |
| 病因遺伝子 | (MC5DN1) ATPAF2 [HSA:91647] [KO:K07556] (MC5DN2) TMEM70 [HSA:54968] [KO:K17966] (MC5DN3) ATP5F1E [HSA:514] [KO:K02135] (MC5DN4) ATP5F1A [HSA:498] [KO:K02132] (MC5DN5) ATP5F1D [HSA:513] [KO:K02134] (MC5DN6) ATP5MK [HSA:84833] [KO:K18194] (MC5DN7) ATP5PO [HSA:539] [KO:K02137] (MC5DM1/NARP/MIBSN) ATP6 [HSA:4508] [KO:K02126] (MC5DM2) ATP8 [HSA:4509] [KO:K02125] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C53.25 ICD-10: G71.3 MeSH: C567528 OMIM: 604273 614052 514053 615228 618120 618683 551500 500003 516060 516070 620359 |
| 文献 | PMID:14757859 (ATPAF2) 著者 De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R タイトル Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. 雑誌 J Med Genet 41:120-4 (2004) DOI:10.1136/jmg.2003.012047 PMID:18953340 (TMEM70) 著者 Cizkova A, Stranecky V, Mayr JA, Tesarova M, Havlickova V, Paul J, Ivanek R, Kuss AW, Hansikova H, Kaplanova V, Vrbacky M, Hartmannova H, Noskova L, Honzik T, Drahota Z, Magner M, Hejzlarova K, Sperl W, Zeman J, Houstek J, Kmoch S タイトル TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 雑誌 Nat Genet 40:1288-90 (2008) DOI:10.1038/ng.246 PMID:20566710 (ATP5F1E) 著者 Mayr JA, Havlickova V, Zimmermann F, Magler I, Kaplanova V, Jesina P, Pecinova A, Nuskova H, Koch J, Sperl W, Houstek J タイトル Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 雑誌 Hum Mol Genet 19:3430-9 (2010) DOI:10.1093/hmg/ddq254 PMID:23599390 (ATP5F1A) 著者 Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ タイトル A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. 雑誌 Brain 136:1544-54 (2013) DOI:10.1093/brain/awt086 PMID:29478781 (ATP5F1D) 著者 Olahova M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fresard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT タイトル Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 雑誌 Am J Hum Genet 102:494-504 (2018) DOI:10.1016/j.ajhg.2018.01.020 PMID:29917077 (ATP5MK) 著者 Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ タイトル USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. 雑誌 Hum Mol Genet 27:3305-3312 (2018) DOI:10.1093/hmg/ddy231 PMID:35621276 (ATP5PO) 著者 Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaec N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK タイトル A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. 雑誌 J Inherit Metab Dis 45:996-1012 (2022) DOI:10.1002/jimd.12526 PMID:7668837 (ATP6) 著者 Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S タイトル A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 雑誌 Ann Neurol 38:468-72 (1995) DOI:10.1002/ana.410380321 PMID:19188198 (ATP6, ATP8) 著者 Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ タイトル Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 雑誌 J Med Genet 46:308-14 (2009) DOI:10.1136/jmg.2008.063149 |