| H01369 | |
| H number | H01369 |
| Name | ATP synthase deficiency |
| Description | 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. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | nt06529(H01369) Thermogenesis |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C53.25 ICD-10: G71.3 MeSH: C567528 OMIM: 604273 614052 514053 615228 618120 618683 551500 500003 516060 516070 620359 |
| Reference | PMID:14757859 (ATPAF2) AUTHORS De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R TITLE Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. JOURNAL J Med Genet 41:120-4 (2004) DOI:10.1136/jmg.2003.012047 PMID:18953340 (TMEM70) AUTHORS 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 TITLE TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. JOURNAL Nat Genet 40:1288-90 (2008) DOI:10.1038/ng.246 PMID:20566710 (ATP5F1E) AUTHORS Mayr JA, Havlickova V, Zimmermann F, Magler I, Kaplanova V, Jesina P, Pecinova A, Nuskova H, Koch J, Sperl W, Houstek J TITLE Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. JOURNAL Hum Mol Genet 19:3430-9 (2010) DOI:10.1093/hmg/ddq254 PMID:23599390 (ATP5F1A) AUTHORS 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 TITLE A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. JOURNAL Brain 136:1544-54 (2013) DOI:10.1093/brain/awt086 PMID:29478781 (ATP5F1D) AUTHORS 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 TITLE Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. JOURNAL Am J Hum Genet 102:494-504 (2018) DOI:10.1016/j.ajhg.2018.01.020 PMID:29917077 (ATP5MK) AUTHORS 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 TITLE USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. JOURNAL Hum Mol Genet 27:3305-3312 (2018) DOI:10.1093/hmg/ddy231 PMID:35621276 (ATP5PO) AUTHORS 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 TITLE A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. JOURNAL J Inherit Metab Dis 45:996-1012 (2022) DOI:10.1002/jimd.12526 PMID:7668837 (ATP6) AUTHORS Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S TITLE A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. JOURNAL Ann Neurol 38:468-72 (1995) DOI:10.1002/ana.410380321 PMID:19188198 (ATP6, ATP8) AUTHORS 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 TITLE Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. JOURNAL J Med Genet 46:308-14 (2009) DOI:10.1136/jmg.2008.063149 |