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Combined oxidative phosphorylation deficiency 59(COXPD59)

MedGen UID:
1050528
Concept ID:
CN375857
Disease or Syndrome
Synonym: COXPD59
 
Gene (location): MRPL39 (21q21.3)
 
Monarch Initiative: MONDO:0957992
OMIM®: 620646

Definition

Combined oxidative phosphorylation deficiency-59 (COXPD59) may present as a lethal infantile form of Leigh syndrome (see 256000) or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood (summary by Amarasekera et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Professional guidelines

PubMed

Zhang W, Li D, Li B, Chu X, Kong B
Int Immunopharmacol 2023 Mar;116:109770. Epub 2023 Feb 4 doi: 10.1016/j.intimp.2023.109770. PMID: 36746021
Maeda S, Mure K, Mugitani K, Watanabe Y, Iwane M, Mohara O, Takeshita T
Alcohol Clin Exp Res 2014 Jun;38(6):1559-66. Epub 2014 Apr 17 doi: 10.1111/acer.12406. PMID: 24749767
Wolf NI, Smeitink JA
Neurology 2002 Nov 12;59(9):1402-5. doi: 10.1212/01.wnl.0000031795.91814.d8. PMID: 12427891

Recent clinical studies

Etiology

Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, Aguirre Patiño JS, Sofer T, Arking DE, Austin TR, Beiser AS, Blangero J, Boerwinkle E, Bressler J, Curran JE, Hou L, Hughes TM, Kardia SLR, Launer LJ, Levy D, Mosley TH, Nasrallah IM, Rich SS, Rotter JI, Seshadri S, Tarraf W, González KA, Ramachandran V, Yaffe K, Nyquist PA, Psaty BM, DeCarli CS, Smith JA, Glahn DC, González HM, Bis JC, Fornage M, Heckbert SR, Fitzpatrick AL, Liu C, Satizabal CL; NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups
Neurology 2023 May 2;100(18):e1930-e1943. Epub 2023 Mar 16 doi: 10.1212/WNL.0000000000207157. PMID: 36927883Free PMC Article
Liu MY, Shao HD, Wu YY, Peng DL, Yu JW, Jia JP, Peng H, Li CR, Sulaiman A, Yu XY, Li CH, Huang WK
Plant Dis 2023 Jul;107(7):2070-2080. Epub 2023 Jul 6 doi: 10.1094/PDIS-08-22-1796-RE. PMID: 36691277
Kullmann S, Goj T, Veit R, Fritsche L, Wagner L, Schneeweiss P, Hoene M, Hoffmann C, Machann J, Niess A, Preissl H, Birkenfeld AL, Peter A, Häring HU, Fritsche A, Moller A, Weigert C, Heni M
JCI Insight 2022 Sep 22;7(18) doi: 10.1172/jci.insight.161498. PMID: 36134657Free PMC Article
Kirola L, Mukherjee A, Mutsuddi M
Mol Neurobiol 2022 Sep;59(9):5673-5694. Epub 2022 Jun 30 doi: 10.1007/s12035-022-02934-z. PMID: 35768750
Ciregia F
Adv Exp Med Biol 2019;1158:59-70. doi: 10.1007/978-981-13-8367-0_4. PMID: 31452135

Diagnosis

Kullmann S, Goj T, Veit R, Fritsche L, Wagner L, Schneeweiss P, Hoene M, Hoffmann C, Machann J, Niess A, Preissl H, Birkenfeld AL, Peter A, Häring HU, Fritsche A, Moller A, Weigert C, Heni M
JCI Insight 2022 Sep 22;7(18) doi: 10.1172/jci.insight.161498. PMID: 36134657Free PMC Article
Virji AZ, Thekkiniath J, Ma W, Lawres L, Knight J, Swei A, Roch KL, Mamoun CB
Int J Parasitol 2019 Feb;49(2):105-113. Epub 2018 Aug 31 doi: 10.1016/j.ijpara.2018.05.008. PMID: 30176236Free PMC Article
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J
Pediatr Res 2006 Jan;59(1):21-6. Epub 2005 Dec 2 doi: 10.1203/01.pdr.0000190572.68191.13. PMID: 16326995
Kemp GJ, Roberts N, Bimson WE, Bakran A, Harris PL, Gilling-Smith GL, Brennan J, Rankin A, Frostick SP
J Vasc Surg 2001 Dec;34(6):1103-10. doi: 10.1067/mva.2001.117152. PMID: 11743568

Therapy

Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, Aguirre Patiño JS, Sofer T, Arking DE, Austin TR, Beiser AS, Blangero J, Boerwinkle E, Bressler J, Curran JE, Hou L, Hughes TM, Kardia SLR, Launer LJ, Levy D, Mosley TH, Nasrallah IM, Rich SS, Rotter JI, Seshadri S, Tarraf W, González KA, Ramachandran V, Yaffe K, Nyquist PA, Psaty BM, DeCarli CS, Smith JA, Glahn DC, González HM, Bis JC, Fornage M, Heckbert SR, Fitzpatrick AL, Liu C, Satizabal CL; NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups
Neurology 2023 May 2;100(18):e1930-e1943. Epub 2023 Mar 16 doi: 10.1212/WNL.0000000000207157. PMID: 36927883Free PMC Article
Zhang W, Li D, Li B, Chu X, Kong B
Int Immunopharmacol 2023 Mar;116:109770. Epub 2023 Feb 4 doi: 10.1016/j.intimp.2023.109770. PMID: 36746021
Kullmann S, Goj T, Veit R, Fritsche L, Wagner L, Schneeweiss P, Hoene M, Hoffmann C, Machann J, Niess A, Preissl H, Birkenfeld AL, Peter A, Häring HU, Fritsche A, Moller A, Weigert C, Heni M
JCI Insight 2022 Sep 22;7(18) doi: 10.1172/jci.insight.161498. PMID: 36134657Free PMC Article
O'Connell TM, Logsdon DL, Payne RM
Mol Genet Metab 2022 Aug;136(4):306-314. Epub 2022 Jun 13 doi: 10.1016/j.ymgme.2022.06.002. PMID: 35798654
Chen J, Jin X, Shen Z, Mei Y, Zhu J, Zhang X, Liang G, Zheng X
Med Oncol 2021 Apr 21;38(6):59. doi: 10.1007/s12032-021-01505-x. PMID: 33880669

Prognosis

O'Connell TM, Logsdon DL, Payne RM
Mol Genet Metab 2022 Aug;136(4):306-314. Epub 2022 Jun 13 doi: 10.1016/j.ymgme.2022.06.002. PMID: 35798654
da Rosa R, Dambrós BP, Höehr de Moraes M, Grand L, Jacolot M, Popowycz F, Steindel M, Schenkel EP, Campos Bernardes LS
Bioorg Chem 2022 Feb;119:105492. Epub 2021 Nov 15 doi: 10.1016/j.bioorg.2021.105492. PMID: 34838333
Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS
Ann Clin Transl Neurol 2019 Mar;6(3):515-524. Epub 2019 Feb 17 doi: 10.1002/acn3.725. PMID: 30911575Free PMC Article
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J
Pediatr Res 2006 Jan;59(1):21-6. Epub 2005 Dec 2 doi: 10.1203/01.pdr.0000190572.68191.13. PMID: 16326995

Clinical prediction guides

Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, Aguirre Patiño JS, Sofer T, Arking DE, Austin TR, Beiser AS, Blangero J, Boerwinkle E, Bressler J, Curran JE, Hou L, Hughes TM, Kardia SLR, Launer LJ, Levy D, Mosley TH, Nasrallah IM, Rich SS, Rotter JI, Seshadri S, Tarraf W, González KA, Ramachandran V, Yaffe K, Nyquist PA, Psaty BM, DeCarli CS, Smith JA, Glahn DC, González HM, Bis JC, Fornage M, Heckbert SR, Fitzpatrick AL, Liu C, Satizabal CL; NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups
Neurology 2023 May 2;100(18):e1930-e1943. Epub 2023 Mar 16 doi: 10.1212/WNL.0000000000207157. PMID: 36927883Free PMC Article
O'Connell TM, Logsdon DL, Payne RM
Mol Genet Metab 2022 Aug;136(4):306-314. Epub 2022 Jun 13 doi: 10.1016/j.ymgme.2022.06.002. PMID: 35798654
Chen J, Jin X, Shen Z, Mei Y, Zhu J, Zhang X, Liang G, Zheng X
Med Oncol 2021 Apr 21;38(6):59. doi: 10.1007/s12032-021-01505-x. PMID: 33880669
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
Lee HN, Eom S, Kim SH, Kang HC, Lee JS, Kim HD, Lee YM
Pediatr Neurol 2016 Nov;64:59-65. Epub 2016 Aug 26 doi: 10.1016/j.pediatrneurol.2016.08.016. PMID: 27671241

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